Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153694585C>A , CM000685.2:g.153694585C>A | GRCh38 |
| NC_000023.10:g.152960040C>A , CM000685.1:g.152960040C>A | GRCh37 |
| NC_000023.9:g.152613234C>A | NCBI36 |
| NG_012016.1:g.11289C>A | |
| NG_012016.2:g.11289C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005629.4:c.1548C>A MANE Select | NP_005620.1:p.Cys516Ter |
| ENST00000253122.10:c.1548C>A MANE Select | ENSP00000253122.5:p.Cys516Ter |
| NM_001142805.1:c.1518C>A | NP_001136277.1:p.Cys506Ter |
| NM_001142805.2:c.1518C>A | NP_001136277.1:p.Cys506Ter |
| NM_001142806.1:c.1203C>A | NP_001136278.1:p.Cys401Ter |
| NM_005629.3:c.1548C>A | NP_005620.1:p.Cys516Ter |
| ENST00000253122.9:c.1548C>A | ENSP00000253122.5:p.Cys516Ter |
| ENST00000430077.6:c.1203C>A | ENSP00000403041.2:p.Cys401Ter |
| ENST00000485324.1:n.1855C>A |