Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31810169C>A , CM000668.2:g.31810169C>A | GRCh38 |
| NC_000006.11:g.31777946C>A , CM000668.1:g.31777946C>A | GRCh37 |
| NC_000006.10:g.31885925C>A | NCBI36 |
| NG_011855.1:g.9890G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005527.4:c.1804G>T MANE Select | NP_005518.3:p.Glu602Ter |
| ENST00000375654.5:c.1804G>T MANE Select | ENSP00000364805.4:p.Glu602Ter |
| NM_005527.3:c.1804G>T | NP_005518.3:p.Glu602Ter |
| ENST00000375654.4:c.1804G>T | ENSP00000364805.4:p.Glu602Ter |
| XM_005249070.3:c.1996G>T | XP_005249127.1:p.Glu666Ter |
| XM_005249071.1:c.1804G>T | XP_005249128.1:p.Glu602Ter |
| XM_005249073.2:c.1804G>T | XP_005249130.1:p.Glu602Ter |
| XM_011514566.1:c.1804G>T | XP_011512868.1:p.Glu602Ter |