Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31635146G= , CM000668.2:g.31635146G= | GRCh38 |
| NC_000006.11:g.31602923G= , CM000668.1:g.31602923G= | GRCh37 |
| NC_000006.10:g.31710902G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376033.3:c.5175G= MANE Select | ENSP00000365201.2:p.Glu1725= | |
| ENST00000376007.8:c.5175G= | ENSP00000365175.4:p.Glu1725= | |
| ENST00000376033.2:c.5175G= | ENSP00000365201.2:p.Glu1725= | |
| ENST00000484787.1:n.586G= | ||
| NM_004638.3:c.5175G= | NP_004629.3:p.Glu1725= | |
| NM_080686.2:c.5175G= | NP_542417.2:p.Glu1725= | |
| XM_011514890.1:c.5175G= | XP_011513192.1:p.Glu1725= | |
| XM_017011274.1:c.5175G= | XP_016866763.1:p.Glu1725= | |
| NM_004638.4:c.5175G= MANE Select | NP_004629.3:p.Glu1725= | |
| NM_080686.3:c.5175G= | NP_542417.2:p.Glu1725= |