Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228158881G>A , CM000663.2:g.228158881G>A | GRCh38 |
| NC_000001.10:g.228346582G>A , CM000663.1:g.228346582G>A | GRCh37 |
| NC_000001.9:g.226413205G>A | NCBI36 |
| NG_011838.1:g.14030G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366714.3:c.1123G>A MANE Select | ENSP00000355675.2:p.Val375Ile | |
| ENST00000366714.2:c.1123G>A | ENSP00000355675.2:p.Val375Ile | |
| NM_020435.3:c.1123G>A | NP_065168.2:p.Val375Ile | |
| NM_020435.4:c.1123G>A MANE Select | NP_065168.2:p.Val375Ile |