Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.98187104C>G , CM000669.2:g.98187104C>G | GRCh38 |
| NC_000007.13:g.97816416C>G , CM000669.1:g.97816416C>G | GRCh37 |
| NC_000007.12:g.97654352C>G | NCBI36 |
| NG_013375.1:g.85220C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297293.6:c.998+106C>G MANE Select | ENSP00000297293.5:n.998+106C>G | |
| ENST00000297293.5:c.998+106C>G | ENSP00000297293.5:n.998+106C>G | |
| NM_014916.3:c.998+106C>G | NP_055731.2:n.998+106C>G | |
| XM_011515981.1:c.992+106C>G | XP_011514283.1:n.992+106C>G | |
| XM_011515981.3:c.992+106C>G | XP_011514283.1:n.992+106C>G | |
| NM_014916.4:c.998+106C>G MANE Select | NP_055731.2:n.998+106C>G |