Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001942G>T , CM000663.2:g.94001942G>T | GRCh38 |
| NC_000001.10:g.94467498G>T , CM000663.1:g.94467498G>T | GRCh37 |
| NC_000001.9:g.94240086G>T | NCBI36 |
| NG_009073.1:g.124208C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6198C>A MANE Select | ENSP00000359245.3:p.Cys2066Ter | |
| ENST00000370225.3:c.6198C>A | ENSP00000359245.3:p.Cys2066Ter | |
| ENST00000465352.1:n.614C>A | ||
| ENST00000536513.5:c.2574C>A | ENSP00000439707.2:p.Cys858Ter | |
| NM_000350.2:c.6198C>A | NP_000341.2:p.Cys2066Ter | |
| NM_000350.3:c.6198C>A MANE Select | NP_000341.2:p.Cys2066Ter |