Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571712G>A , CM000663.2:g.154571712G>A | GRCh38 |
| NC_000001.10:g.154544188G>A , CM000663.1:g.154544188G>A | GRCh37 |
| NC_000001.9:g.152810812G>A | NCBI36 |
| NG_008027.1:g.8932G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.889G>A MANE Select | ENSP00000357461.3:p.Val297Ile | |
| ENST00000636034.1:c.889G>A | ENSP00000489703.1:p.Val297Ile | |
| ENST00000637900.1:c.895G>A | ENSP00000490474.1:p.Val299Ile | |
| ENST00000368476.3:c.889G>A | ENSP00000357461.3:p.Val297Ile | |
| NM_000748.2:c.889G>A | NP_000739.1:p.Val297Ile | |
| XM_017000180.2:c.379G>A | XP_016855669.1:p.Val127Ile | |
| XR_001736952.2:n.1141G>A | ||
| NM_000748.3:c.889G>A MANE Select | NP_000739.1:p.Val297Ile |