Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94063315G>T , CM000663.2:g.94063315G>T | GRCh38 |
| NC_000001.10:g.94528871G>T , CM000663.1:g.94528871G>T | GRCh37 |
| NC_000001.9:g.94301459G>T | NCBI36 |
| NG_009073.1:g.62835C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.1557C>A MANE Select | NP_000341.2:p.Cys519Ter |
| ENST00000370225.4:c.1557C>A MANE Select | ENSP00000359245.3:p.Cys519Ter |
| NM_000350.2:c.1557C>A | NP_000341.2:p.Cys519Ter |
| ENST00000370225.3:c.1557C>A | ENSP00000359245.3:p.Cys519Ter |
| ENST00000649773.1:c.1557C>A | ENSP00000496882.1:p.Cys519Ter |