Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80275131A= , CM000672.2:g.80275131A= | GRCh38 |
| NC_000010.10:g.82034887A= , CM000672.1:g.82034887A= | GRCh37 |
| NC_000010.9:g.82024867A= | NCBI36 |
| NG_008083.1:g.19548T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.837T= MANE Select | ENSP00000361287.3:p.Gly279= | |
| ENST00000372213.7:c.837T= | ENSP00000361287.3:p.Gly279= | |
| ENST00000480845.1:n.69T= | ||
| ENST00000485270.5:n.349T= | ||
| NM_000429.2:c.837T= | NP_000420.1:p.Gly279= | |
| XM_005269842.3:c.837T= | XP_005269899.1:p.Gly279= | |
| XM_005269843.3:c.714T= | XP_005269900.1:p.Gly238= | |
| NM_000429.3:c.837T= MANE Select | NP_000420.1:p.Gly279= |