Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.167794806T>C , CM000665.2:g.167794806T>C | GRCh38 |
| NC_000003.11:g.167512594T>C , CM000665.1:g.167512594T>C | GRCh37 |
| NC_000003.10:g.168995288T>C | NCBI36 |
| NG_008217.1:g.64163T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001122752.2:c.863T>C MANE Select | NP_001116224.1:p.Val288Ala |
| ENST00000446050.7:c.863T>C MANE Select | ENSP00000397373.2:p.Val288Ala |
| NM_001122752.1:c.863T>C | NP_001116224.1:p.Val288Ala |
| NM_005025.4:c.863T>C | NP_005016.1:p.Val288Ala |
| NM_005025.5:c.863T>C | NP_005016.1:p.Val288Ala |
| ENST00000295777.9:c.863T>C | ENSP00000295777.5:p.Val288Ala |
| ENST00000446050.6:c.863T>C | ENSP00000397373.2:p.Val288Ala |
| XM_017006618.2:c.863T>C | XP_016862107.1:p.Val288Ala |