Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225704C>T , CM000673.2:g.5225704C>T | GRCh38 |
| NC_000011.9:g.5246934C>T , CM000673.1:g.5246934C>T | GRCh37 |
| NC_000011.8:g.5203510C>T | NCBI36 |
| NG_000007.3:g.71912G>A | |
| NG_059281.1:g.6368G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.338G>A MANE Select | NP_000509.1:p.Cys113Tyr |
| ENST00000335295.4:c.338G>A MANE Select | ENSP00000333994.3:p.Cys113Tyr |
| NM_000518.4:c.338G>A | NP_000509.1:p.Cys113Tyr |
| ENST00000475226.1:n.270G>A | |
| ENST00000633227.1:c.*154G>A | ENSP00000488004.1:n.*154G>A |
| ENST00000647020.1:c.338G>A | ENSP00000494175.1:p.Cys113Tyr |