Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110166247C>T , CM000675.2:g.110166247C>T | GRCh38 |
| NC_000013.10:g.110818594C>T , CM000675.1:g.110818594C>T | GRCh37 |
| NC_000013.9:g.109616595C>T | NCBI36 |
| NG_011544.2:g.145903G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001845.6:c.4006G>A MANE Select | NP_001836.3:p.Val1336Ile |
| ENST00000375820.10:c.4006G>A MANE Select | ENSP00000364979.4:p.Val1336Ile |
| NM_001845.5:c.4006G>A | NP_001836.3:p.Val1336Ile |
| ENST00000375820.8:c.4006G>A | ENSP00000364979.4:p.Val1336Ile |
| ENST00000650424.1:c.162G>A | |
| XM_011521048.1:c.3814G>A | XP_011519350.1:p.Val1272Ile |
| XM_011521048.2:c.3814G>A | XP_011519350.1:p.Val1272Ile |