Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811957G>C , CM000677.2:g.71811957G>C | GRCh38 |
| NC_000015.9:g.72104297G>C , CM000677.1:g.72104297G>C | GRCh37 |
| NC_000015.8:g.69891351G>C | NCBI36 |
| NG_009113.2:g.6403G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014249.4:c.352G>C MANE Select | NP_055064.1:p.Val118Leu |
| ENST00000617575.5:c.352G>C MANE Select | ENSP00000482504.1:p.Val118Leu |
| NM_014249.3:c.352G>C | NP_055064.1:p.Val118Leu |
| NM_016346.3:c.352G>C | NP_057430.1:p.Val118Leu |
| NM_016346.4:c.352G>C | NP_057430.1:p.Val118Leu |
| ENST00000617575.4:c.352G>C | ENSP00000482504.1:p.Val118Leu |
| ENST00000621098.1:c.352G>C | ENSP00000479962.1:p.Val118Leu |
| ENST00000621736.4:c.88G>C | ENSP00000479254.1:p.Val30Leu |
| XM_011521146.1:c.88G>C | XP_011519448.1:p.Val30Leu |