This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Revel Score:
ENST00000307340 (MANE Select)
0.521
ENST00000366943
0.521
ENST00000366942
0.521
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216289312C>G , CM000663.2:g.216289312C>G | GRCh38 |
| NC_000001.10:g.216462654C>G , CM000663.1:g.216462654C>G | GRCh37 |
| NC_000001.9:g.214529277C>G | NCBI36 |
| NG_009497.1:g.139085G>C | |
| NG_009497.2:g.139137G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.1939G>C MANE Select | ENSP00000305941.3:p.Gly647Arg | |
| ENST00000674083.1:c.1939G>C | ENSP00000501296.1:p.Gly647Arg | |
| ENST00000307340.7:c.1939G>C | ENSP00000305941.3:p.Gly647Arg | |
| ENST00000366942.3:c.1939G>C | ENSP00000355909.3:p.Gly647Arg | |
| NM_007123.5:c.1939G>C | NP_009054.5:p.Gly647Arg | |
| NM_206933.2:c.1939G>C | NP_996816.2:p.Gly647Arg | |
| NM_206933.3:c.1939G>C | NP_996816.2:p.Gly647Arg | |
| NM_007123.6:c.1939G>C | NP_009054.6:p.Gly647Arg | |
| NM_206933.4:c.1939G>C MANE Select | NP_996816.3:p.Gly647Arg |