Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.89152355C>T , CM000663.2:g.89152355C>T | GRCh38 |
| NC_000001.10:g.89618038C>T , CM000663.1:g.89618038C>T | GRCh37 |
| NC_000001.9:g.89390626C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294671.3:c.538G>A MANE Select | ENSP00000294671.2:p.Val180Ile | |
| ENST00000650452.1:c.538G>A | ENSP00000496924.1:p.Val180Ile | |
| ENST00000294671.2:c.538G>A | ENSP00000294671.2:p.Val180Ile | |
| NM_207398.2:c.538G>A | NP_997281.2:p.Val180Ile | |
| XR_947579.1:n.533+2809C>T | ||
| XR_947579.2:n.533+2809C>T | ||
| NM_207398.3:c.538G>A MANE Select | NP_997281.2:p.Val180Ile |