Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226610A>C , CM000673.2:g.5226610A>C | GRCh38 |
| NC_000011.9:g.5247840A>C , CM000673.1:g.5247840A>C | GRCh37 |
| NC_000011.8:g.5204416A>C | NCBI36 |
| NG_000007.3:g.71006T>G | |
| NG_059281.1:g.5462T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.282T>G | ENSP00000494175.1:p.Cys94Trp | |
| ENST00000335295.4:c.282T>G MANE Select | ENSP00000333994.3:p.Cys94Trp | |
| ENST00000475226.1:n.214T>G | ||
| ENST00000485743.1:n.333T>G | ||
| ENST00000633227.1:c.*98T>G | ENSP00000488004.1:n.*98T>G | |
| NM_000518.4:c.282T>G | NP_000509.1:p.Cys94Trp | |
| NM_000518.5:c.282T>G MANE Select | NP_000509.1:p.Cys94Trp |