Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40838474C>G , CM000663.2:g.40838474C>G | GRCh38 |
| NC_000001.10:g.41304146C>G , CM000663.1:g.41304146C>G | GRCh37 |
| NC_000001.9:g.41076733C>G | NCBI36 |
| NG_008139.1:g.59463C>G | |
| NG_008139.2:g.59463C>G | |
| NG_008139.3:g.59688C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004700.4:c.2039C>G MANE Select | NP_004691.2:p.Ser680Cys |
| ENST00000347132.10:c.2039C>G MANE Select | ENSP00000262916.6:p.Ser680Cys |
| NM_004700.3:c.2039C>G | NP_004691.2:p.Ser680Cys |
| NM_172163.2:c.1877C>G | NP_751895.1:p.Ser626Cys |
| NM_172163.3:c.1877C>G | NP_751895.1:p.Ser626Cys |
| ENST00000347132.9:c.2039C>G | ENSP00000262916.6:p.Ser680Cys |
| ENST00000443478.3:c.1620C>G | |
| ENST00000506017.1:n.1358C>G | |
| ENST00000509682.6:c.1877C>G | ENSP00000423756.2:p.Ser626Cys |
| XM_017002792.1:c.1022C>G | XP_016858281.1:p.Ser341Cys |