Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31810658C>T , CM000668.2:g.31810658C>T | GRCh38 |
| NC_000006.11:g.31778435C>T , CM000668.1:g.31778435C>T | GRCh37 |
| NC_000006.10:g.31886414C>T | NCBI36 |
| NG_011855.1:g.9401G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005527.4:c.1315G>A MANE Select | NP_005518.3:p.Gly439Arg |
| ENST00000375654.5:c.1315G>A MANE Select | ENSP00000364805.4:p.Gly439Arg |
| NM_005527.3:c.1315G>A | NP_005518.3:p.Gly439Arg |
| ENST00000375654.4:c.1315G>A | ENSP00000364805.4:p.Gly439Arg |
| XM_005249070.3:c.1507G>A | XP_005249127.1:p.Gly503Arg |
| XM_005249071.1:c.1315G>A | XP_005249128.1:p.Gly439Arg |
| XM_005249073.2:c.1315G>A | XP_005249130.1:p.Gly439Arg |
| XM_011514566.1:c.1315G>A | XP_011512868.1:p.Gly439Arg |