Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44110315G>A , CM000669.2:g.44110315G>A | GRCh38 |
| NC_000007.13:g.44149914G>A , CM000669.1:g.44149914G>A | GRCh37 |
| NC_000007.12:g.44116439G>A | NCBI36 |
| NG_056775.1:g.10996G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223357.8:c.1369G>A MANE Select | ENSP00000223357.3:p.Val457Ile | |
| ENST00000223357.7:c.1369G>A | ENSP00000223357.3:p.Val457Ile | |
| ENST00000434445.1:c.52G>A | ENSP00000397241.1:p.Val18Ile | |
| NM_001129.4:c.1369G>A | NP_001120.3:p.Val457Ile | |
| XM_011515162.1:c.1291G>A | XP_011513464.1:p.Val431Ile | |
| NM_001129.5:c.1369G>A MANE Select | NP_001120.3:p.Val457Ile |