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
0.00001895 (NFE)
Exomes Max Group AF
0.00002314 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153691131A>C , CM000685.2:g.153691131A>C | GRCh38 |
| NC_000023.10:g.152956586A>C , CM000685.1:g.152956586A>C | GRCh37 |
| NC_000023.9:g.152609780A>C | NCBI36 |
| NG_012016.1:g.7835A>C | |
| NG_012016.2:g.7835A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.395-173A>C MANE Select | ENSP00000253122.5:n.395-173A>C | |
| ENST00000675713.1:n.149-173A>C | ||
| ENST00000253122.9:c.395-173A>C | ENSP00000253122.5:n.395-173A>C | |
| ENST00000430077.6:c.50-173A>C | ENSP00000403041.2:n.50-173A>C | |
| ENST00000466243.1:n.14A>C | ||
| NM_001142805.1:c.395-173A>C | NP_001136277.1:n.395-173A>C | |
| NM_001142806.1:c.50-173A>C | NP_001136278.1:n.50-173A>C | |
| NM_005629.3:c.395-173A>C | NP_005620.1:n.395-173A>C | |
| NM_005629.4:c.395-173A>C MANE Select | NP_005620.1:n.395-173A>C | |
| NM_001142805.2:c.395-173A>C | NP_001136277.1:n.395-173A>C |