Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226612A>G , CM000673.2:g.5226612A>G | GRCh38 |
| NC_000011.9:g.5247842A>G , CM000673.1:g.5247842A>G | GRCh37 |
| NC_000011.8:g.5204418A>G | NCBI36 |
| NG_000007.3:g.71004T>C | |
| NG_059281.1:g.5460T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.280T>C | ENSP00000494175.1:p.Cys94Arg | |
| ENST00000335295.4:c.280T>C MANE Select | ENSP00000333994.3:p.Cys94Arg | |
| ENST00000475226.1:n.212T>C | ||
| ENST00000485743.1:n.331T>C | ||
| ENST00000633227.1:c.*96T>C | ENSP00000488004.1:n.*96T>C | |
| NM_000518.4:c.280T>C | NP_000509.1:p.Cys94Arg | |
| NM_000518.5:c.280T>C MANE Select | NP_000509.1:p.Cys94Arg |