Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.52687760T>C , CM000663.2:g.52687760T>C | GRCh38 |
| NC_000001.10:g.53153432T>C , CM000663.1:g.53153432T>C | GRCh37 |
| NC_000001.9:g.52926020T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371538.5:c.656A>G MANE Select | ENSP00000360593.3:p.Lys219Arg | |
| ENST00000371538.4:c.656A>G | ENSP00000360593.3:p.Lys219Arg | |
| ENST00000486918.1:n.710A>G | ||
| NM_023077.2:c.656A>G | NP_075565.2:p.Lys219Arg | |
| NM_023077.3:c.656A>G MANE Select | NP_075565.2:p.Lys219Arg |