Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80275108T= , CM000672.2:g.80275108T= | GRCh38 |
| NC_000010.10:g.82034864T= , CM000672.1:g.82034864T= | GRCh37 |
| NC_000010.9:g.82024844T= | NCBI36 |
| NG_008083.1:g.19571A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.860A= MANE Select | ENSP00000361287.3:p.Tyr287= | |
| ENST00000372213.7:c.860A= | ENSP00000361287.3:p.Tyr287= | |
| ENST00000480845.1:n.92A= | ||
| ENST00000485270.5:n.372A= | ||
| NM_000429.2:c.860A= | NP_000420.1:p.Tyr287= | |
| XM_005269842.3:c.860A= | XP_005269899.1:p.Tyr287= | |
| XM_005269843.3:c.737A= | XP_005269900.1:p.Tyr246= | |
| NM_000429.3:c.860A= MANE Select | NP_000420.1:p.Tyr287= |