Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202295712G>A , CM000664.2:g.202295712G>A | GRCh38 |
| NC_000002.11:g.203160435G>A , CM000664.1:g.203160435G>A | GRCh37 |
| NC_000002.10:g.202868680G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015934.5:c.946G>A MANE Select | NP_057018.1:p.Val316Ile |
| ENST00000264279.10:c.946G>A MANE Select | ENSP00000264279.5:p.Val316Ile |
| NM_015934.3:c.946G>A | NP_057018.1:p.Val316Ile |
| NM_015934.4:c.946G>A | NP_057018.1:p.Val316Ile |
| ENST00000264279.9:c.946G>A | ENSP00000264279.5:p.Val316Ile |
| ENST00000433543.2:c.518-1667G>A | ENSP00000388126.1:n.518-1667G>A |