Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.98186942A>C , CM000669.2:g.98186942A>C | GRCh38 |
| NC_000007.13:g.97816254A>C , CM000669.1:g.97816254A>C | GRCh37 |
| NC_000007.12:g.97654190A>C | NCBI36 |
| NG_013375.1:g.85058A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297293.6:c.942A>C MANE Select | ENSP00000297293.5:p.Val314= | |
| ENST00000297293.5:c.942A>C | ENSP00000297293.5:p.Val314= | |
| NM_014916.3:c.942A>C | NP_055731.2:p.Val314= | |
| XM_011515981.1:c.936A>C | XP_011514283.1:p.Val312= | |
| XM_011515981.3:c.936A>C | XP_011514283.1:p.Val312= | |
| NM_014916.4:c.942A>C MANE Select | NP_055731.2:p.Val314= |