Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31810169C= , CM000668.2:g.31810169C= | GRCh38 |
| NC_000006.11:g.31777946C= , CM000668.1:g.31777946C= | GRCh37 |
| NC_000006.10:g.31885925C= | NCBI36 |
| NG_011855.1:g.9890G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375654.5:c.1804G= MANE Select | ENSP00000364805.4:p.Glu602= | |
| ENST00000375654.4:c.1804G= | ENSP00000364805.4:p.Glu602= | |
| NM_005527.3:c.1804G= | NP_005518.3:p.Glu602= | |
| XM_005249070.3:c.1996G= | XP_005249127.1:p.Glu666= | |
| XM_005249071.1:c.1804G= | XP_005249128.1:p.Glu602= | |
| XM_005249073.2:c.1804G= | XP_005249130.1:p.Glu602= | |
| XM_011514566.1:c.1804G= | XP_011512868.1:p.Glu602= | |
| NM_005527.4:c.1804G= MANE Select | NP_005518.3:p.Glu602= |