Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80275074G>T , CM000672.2:g.80275074G>T | GRCh38 |
| NC_000010.10:g.82034830G>T , CM000672.1:g.82034830G>T | GRCh37 |
| NC_000010.9:g.82024810G>T | NCBI36 |
| NG_008083.1:g.19605C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.894C>A MANE Select | ENSP00000361287.3:p.Ala298= | |
| ENST00000372213.7:c.894C>A | ENSP00000361287.3:p.Ala298= | |
| ENST00000480845.1:n.126C>A | ||
| ENST00000485270.5:n.406C>A | ||
| NM_000429.2:c.894C>A | NP_000420.1:p.Ala298= | |
| XM_005269842.3:c.894C>A | XP_005269899.1:p.Ala298= | |
| XM_005269843.3:c.771C>A | XP_005269900.1:p.Ala257= | |
| NM_000429.3:c.894C>A MANE Select | NP_000420.1:p.Ala298= |