Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15442467T>C , CM000663.2:g.15442467T>C | GRCh38 |
| NC_000001.10:g.15768963T>C , CM000663.1:g.15768963T>C | GRCh37 |
| NC_000001.9:g.15641550T>C | NCBI36 |
| NG_009253.1:g.9026T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007272.3:c.251T>C MANE Select | NP_009203.2:p.Val84Ala |
| ENST00000375949.5:c.251T>C MANE Select | ENSP00000365116.4:p.Val84Ala |
| NM_007272.2:c.251T>C | NP_009203.2:p.Val84Ala |
| ENST00000375943.6:c.61T>C | ENSP00000365110.2:p.Trp21Arg |
| ENST00000375949.4:c.251T>C | ENSP00000365116.4:p.Val84Ala |
| ENST00000476813.5:n.73T>C | |
| ENST00000483406.1:n.161T>C | |
| XM_011540550.1:c.251T>C | XP_011538852.1:p.Val84Ala |