This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
gnomAD v4:
Joint Max Group AF
0.00000412 (NFE)
Exomes Max Group AF
0.00000503 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87864138T>G , CM000672.2:g.87864138T>G | GRCh38 |
| NC_000010.10:g.89623895T>G , CM000672.1:g.89623895T>G | GRCh37 |
| NC_000010.9:g.89613875T>G | NCBI36 |
| NG_007466.2:g.5700T>G , LRG_311:g.5700T>G | |
| NG_033079.1:g.4300A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.-332T>G | ENSP00000514759.2:n.-332T>G | |
| ENST00000710265.1:c.-332T>G | ENSP00000518161.1:n.-332T>G | |
| ENST00000700021.1:c.-332T>G | ENSP00000514757.1:n.-332T>G | |
| ENST00000700022.1:c.-332T>G | ENSP00000514758.1:n.-332T>G | |
| ENST00000706954.1:c.-16-316T>G | ENSP00000516674.1:n.-16-316T>G | |
| ENST00000706955.1:c.-332T>G | ENSP00000516675.1:n.-332T>G | |
| ENST00000688158.1:c.-332T>G | ENSP00000509254.1:n.-332T>G | |
| ENST00000688308.1:c.-16-316T>G | ENSP00000508752.1:n.-16-316T>G | |
| ENST00000693560.1:c.188T>G | ENSP00000509861.1:p.Leu63Arg | |
| ENST00000371953.8:c.-332T>G MANE Select | ENSP00000361021.3:n.-332T>G | |
| ENST00000371953.7:c.-332T>G | ENSP00000361021.3:n.-332T>G | |
| ENST00000610634.1:c.-434T>G | ENSP00000477517.1:n.-434T>G | |
| NM_000314.5:c.-332T>G | NP_000305.3:n.-332T>G | |
| NM_000314.6:c.-332T>G | NP_000305.3:n.-332T>G | |
| NM_001304717.2:c.188T>G | NP_001291646.2:p.Leu63Arg | |
| NM_001304718.1:c.-1037T>G | NP_001291647.1:n.-1037T>G | |
| XM_006717926.2:c.-332T>G | XP_006717989.1:n.-332T>G | |
| XM_011539981.1:c.-332T>G | XP_011538283.1:n.-332T>G | |
| XR_945789.1:n.381T>G | ||
| XR_945790.1:n.381T>G | ||
| XR_945791.1:n.381T>G | ||
| NM_000314.7:c.-332T>G | NP_000305.3:n.-332T>G | |
| NM_001304717.5:c.188T>G | NP_001291646.4:p.Leu63Arg | |
| NM_001304718.2:c.-1037T>G | NP_001291647.1:n.-1037T>G | |
| NM_000314.8:c.-332T>G MANE Select | NP_000305.3:n.-332T>G |