Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763715C>A , CM000674.2:g.57763715C>A | GRCh38 |
| NC_000012.11:g.58157498C>A , CM000674.1:g.58157498C>A | GRCh37 |
| NC_000012.10:g.56443765C>A | NCBI36 |
| NG_007076.1:g.8479G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1390G>T | ENSP00000518840.1:p.Gly464Cys | |
| ENST00000713545.1:c.*314G>T | ENSP00000518841.1:n.*314G>T | |
| ENST00000228606.9:c.1309G>T MANE Select | ENSP00000228606.4:p.Gly437Cys | |
| ENST00000228606.8:c.1309G>T | ENSP00000228606.4:p.Gly437Cys | |
| ENST00000547344.5:n.1448G>T | ||
| NM_000785.3:c.1309G>T | NP_000776.1:p.Gly437Cys | |
| NM_000785.4:c.1309G>T MANE Select | NP_000776.1:p.Gly437Cys |