Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.62210513C>A , CM000663.2:g.62210513C>A | GRCh38 |
| NC_000001.10:g.62676185C>A , CM000663.1:g.62676185C>A | GRCh37 |
| NC_000001.9:g.62448773C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019079.5:c.1739C>A MANE Select | NP_061952.3:p.Ser580Ter |
| ENST00000498273.2:c.1739C>A MANE Select | ENSP00000419901.1:p.Ser580Ter |
| NM_001164835.1:c.1739C>A | NP_001158307.1:p.Ser580Ter |
| NM_001164835.2:c.1739C>A | NP_001158307.1:p.Ser580Ter |
| NM_019079.4:c.1739C>A | NP_061952.3:p.Ser580Ter |
| ENST00000498273.1:c.1739C>A | ENSP00000419901.1:p.Ser580Ter |