Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143485162G>A , CM000668.2:g.143485162G>A | GRCh38 |
| NC_000006.11:g.143806299G>A , CM000668.1:g.143806299G>A | GRCh37 |
| NC_000006.10:g.143847992G>A | NCBI36 |
| NG_008459.1:g.39382G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.952G>A MANE Select | ENSP00000356563.4:p.Val318Ile | |
| ENST00000367591.4:c.952G>A | ENSP00000356563.4:p.Val318Ile | |
| ENST00000585848.1:n.91G>A | ||
| NM_003630.2:c.952G>A | NP_003621.1:p.Val318Ile | |
| NM_003630.3:c.952G>A MANE Select | NP_003621.1:p.Val318Ile |