Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15443438A>T , CM000663.2:g.15443438A>T | GRCh38 |
| NC_000001.10:g.15769933A>T , CM000663.1:g.15769933A>T | GRCh37 |
| NC_000001.9:g.15642520A>T | NCBI36 |
| NG_009253.1:g.9996A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007272.3:c.376A>T MANE Select | NP_009203.2:p.Lys126Ter |
| ENST00000375949.5:c.376A>T MANE Select | ENSP00000365116.4:p.Lys126Ter |
| NM_007272.2:c.376A>T | NP_009203.2:p.Lys126Ter |
| ENST00000375943.6:c.186A>T | ENSP00000365110.2:p.Ser62= |
| ENST00000375949.4:c.376A>T | ENSP00000365116.4:p.Lys126Ter |
| ENST00000476813.5:n.198A>T | |
| ENST00000483406.1:n.286A>T | |
| XM_011540550.1:c.376A>T | XP_011538852.1:p.Lys126Ter |