Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151615497C= , CM000668.2:g.151615497C= | GRCh38 |
| NC_000006.11:g.151936632C= , CM000668.1:g.151936632C= | GRCh37 |
| NC_000006.10:g.151978325C= | NCBI36 |
| NG_021198.1:g.126458C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239374.8:c.1765C= MANE Select | ENSP00000239374.6:p.Gln589= | |
| ENST00000239374.7:c.1765C= | ENSP00000239374.6:p.Gln589= | |
| ENST00000537358.1:n.551C= | ||
| NM_025059.3:c.1765C= | NP_079335.2:p.Gln589= | |
| XM_011536147.1:c.1783C= | XP_011534449.1:p.Gln595= | |
| XM_011536148.1:c.1582C= | XP_011534450.1:p.Gln528= | |
| XM_011536147.2:c.1783C= | XP_011534449.1:p.Gln595= | |
| XM_011536148.2:c.1582C= | XP_011534450.1:p.Gln528= | |
| XR_001743865.1:n.129+1224G= | ||
| NM_025059.4:c.1765C= MANE Select | NP_079335.2:p.Gln589= |