Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41387656G>A , CM000684.2:g.41387656G>A | GRCh38 |
| NC_000022.10:g.41783660G>A , CM000684.1:g.41783660G>A | GRCh37 |
| NC_000022.9:g.40113606G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266304.9:c.463G>A MANE Select | ENSP00000266304.4:p.Val155Met | |
| ENST00000266304.8:c.463G>A | ENSP00000266304.4:p.Val155Met | |
| ENST00000406644.7:c.373G>A | ENSP00000385256.3:p.Val125Met | |
| ENST00000413942.1:c.360G>A | ||
| NM_001145398.2:c.373G>A | NP_001138870.1:p.Val125Met | |
| NM_003216.3:c.463G>A | NP_003207.1:p.Val155Met | |
| NM_003216.4:c.463G>A MANE Select | NP_003207.1:p.Val155Met | |
| NM_001145398.3:c.373G>A | NP_001138870.1:p.Val125Met |