Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31811413A>C , CM000668.2:g.31811413A>C | GRCh38 |
| NC_000006.11:g.31779190A>C , CM000668.1:g.31779190A>C | GRCh37 |
| NC_000006.10:g.31887169A>C | NCBI36 |
| NG_011855.1:g.8646T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005527.4:c.560T>G MANE Select | NP_005518.3:p.Leu187Ter |
| ENST00000375654.5:c.560T>G MANE Select | ENSP00000364805.4:p.Leu187Ter |
| NM_005527.3:c.560T>G | NP_005518.3:p.Leu187Ter |
| ENST00000375654.4:c.560T>G | ENSP00000364805.4:p.Leu187Ter |
| XM_005249070.3:c.752T>G | XP_005249127.1:p.Leu251Ter |
| XM_005249071.1:c.560T>G | XP_005249128.1:p.Leu187Ter |
| XM_005249073.2:c.560T>G | XP_005249130.1:p.Leu187Ter |
| XM_011514566.1:c.560T>G | XP_011512868.1:p.Leu187Ter |