Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.98186836A>G , CM000669.2:g.98186836A>G | GRCh38 |
| NC_000007.13:g.97816148A>G , CM000669.1:g.97816148A>G | GRCh37 |
| NC_000007.12:g.97654084A>G | NCBI36 |
| NG_013375.1:g.84952A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297293.6:c.877-41A>G MANE Select | ENSP00000297293.5:n.877-41A>G | |
| ENST00000297293.5:c.877-41A>G | ENSP00000297293.5:n.877-41A>G | |
| NM_014916.3:c.877-41A>G | NP_055731.2:n.877-41A>G | |
| XM_011515981.1:c.871-41A>G | XP_011514283.1:n.871-41A>G | |
| XM_011515981.3:c.871-41A>G | XP_011514283.1:n.871-41A>G | |
| NM_014916.4:c.877-41A>G MANE Select | NP_055731.2:n.877-41A>G |