Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.741375G>A , CM000669.2:g.741375G>A | GRCh38 |
| NC_000007.13:g.781012G>A , CM000669.1:g.781012G>A | GRCh37 |
| NC_000007.12:g.747538G>A | NCBI36 |
| NG_033137.1:g.19675G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017802.4:c.934G>A MANE Select | NP_060272.3:p.Val312Ile |
| ENST00000297440.11:c.934G>A MANE Select | ENSP00000297440.6:p.Val312Ile |
| NM_017802.3:c.934G>A | NP_060272.3:p.Val312Ile |
| NR_075098.1:n.892G>A | |
| NR_075098.2:n.894G>A | |
| ENST00000297440.10:c.934G>A | ENSP00000297440.6:p.Val312Ile |
| ENST00000437419.5:c.251G>A | |
| ENST00000438961.1:n.403G>A | |
| ENST00000440747.5:c.338G>A | |
| XM_024446813.1:c.934G>A | XP_024302581.1:p.Val312Ile |
| XM_024446814.1:c.328G>A | XP_024302582.1:p.Val110Ile |