Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.40687965C>T , CM000682.2:g.40687965C>T | GRCh38 |
| NC_000020.10:g.39316605C>T , CM000682.1:g.39316605C>T | GRCh37 |
| NC_000020.9:g.38750019C>T | NCBI36 |
| NG_023378.1:g.6272G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005461.5:c.886G>A MANE Select | NP_005452.2:p.Val296Ile |
| ENST00000373313.3:c.886G>A MANE Select | ENSP00000362410.2:p.Val296Ile |
| NM_005461.4:c.886G>A | NP_005452.2:p.Val296Ile |
| ENST00000373313.2:c.886G>A | ENSP00000362410.2:p.Val296Ile |