Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129822640C>T , CM000671.2:g.129822640C>T | GRCh38 |
| NC_000009.11:g.132584919C>T , CM000671.1:g.132584919C>T | GRCh37 |
| NC_000009.10:g.131624740C>T | NCBI36 |
| NG_008049.1:g.6523G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.385G>A MANE Select | ENSP00000345719.4:p.Val129Ile | |
| ENST00000651202.1:c.481G>A | ENSP00000498222.1:p.Val161Ile | |
| ENST00000351698.4:c.385G>A | ENSP00000345719.4:p.Val129Ile | |
| ENST00000473084.1:n.404G>A | ||
| ENST00000473604.2:n.495G>A | ||
| NM_000113.2:c.385G>A | NP_000104.1:p.Val129Ile | |
| XR_929731.1:n.545G>A | ||
| XR_929731.3:n.413G>A | ||
| NM_000113.3:c.385G>A MANE Select | NP_000104.1:p.Val129Ile |