Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.172916363G>A , CM000665.2:g.172916363G>A | GRCh38 |
| NC_000003.11:g.172634153G>A , CM000665.1:g.172634153G>A | GRCh37 |
| NC_000003.10:g.174116847G>A | NCBI36 |
| NG_021422.1:g.229906C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351008.4:c.1457C>T MANE Select | ENSP00000341765.3:p.Ala486Val | |
| ENST00000652082.1:c.664C>T | ||
| ENST00000351008.3:c.1457C>T | ENSP00000341765.3:p.Ala486Val | |
| NM_031955.5:c.1457C>T | NP_114161.3:p.Ala486Val | |
| XM_006713778.2:c.1457C>T | XP_006713841.1:p.Ala486Val | |
| XM_006713778.3:c.1457C>T | XP_006713841.1:p.Ala486Val | |
| NM_031955.6:c.1457C>T MANE Select | NP_114161.3:p.Ala486Val |