dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158255035C>G , CM000663.2:g.158255035C>G | GRCh38 |
| NC_000001.10:g.158224825C>G , CM000663.1:g.158224825C>G | GRCh37 |
| NC_000001.9:g.156491449C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289429.6:c.59-49C>G MANE Select | ENSP00000289429.5:n.59-49C>G | |
| ENST00000289429.5:c.59-49C>G | ENSP00000289429.5:n.59-49C>G | |
| NM_001763.2:c.59-49C>G | NP_001754.2:n.59-49C>G | |
| XM_011510117.1:c.26-49C>G | XP_011508419.1:n.26-49C>G | |
| XM_011510118.1:c.59-49C>G | XP_011508420.1:n.59-49C>G | |
| NM_001320652.1:c.26-49C>G | NP_001307581.1:n.26-49C>G | |
| XM_024450738.1:c.-410-49C>G | XP_024306506.1:n.-410-49C>G | |
| NM_001763.3:c.59-49C>G MANE Select | NP_001754.2:n.59-49C>G | |
| NM_001320652.2:c.26-49C>G | NP_001307581.1:n.26-49C>G |