gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.102361999C>G , CM000664.2:g.102361999C>G | GRCh38 |
| NC_000002.11:g.102978459C>G , CM000664.1:g.102978459C>G | GRCh37 |
| NC_000002.10:g.102344891C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233957.7:c.-28-634C>G MANE Select | ENSP00000233957.1:n.-28-634C>G | |
| ENST00000233957.5:c.-28-634C>G | ENSP00000233957.1:n.-28-634C>G | |
| ENST00000409599.5:c.-28-634C>G | ENSP00000387211.1:n.-28-634C>G | |
| ENST00000410040.5:c.-28-634C>G | ENSP00000386663.1:n.-28-634C>G | |
| ENST00000466357.1:n.357-634C>G | ||
| NM_001282399.1:c.-306-634C>G | NP_001269328.1:n.-306-634C>G | |
| NM_003855.3:c.-28-634C>G | NP_003846.1:n.-28-634C>G | |
| XM_017005181.2:c.-550-634C>G | XP_016860670.1:n.-550-634C>G | |
| XM_017005182.1:c.-531-634C>G | XP_016860671.1:n.-531-634C>G | |
| XM_017005183.1:c.-531-634C>G | XP_016860672.1:n.-531-634C>G | |
| XM_017005184.1:c.-365-634C>G | XP_016860673.1:n.-365-634C>G | |
| XM_024453202.1:c.-28-634C>G | XP_024308970.1:n.-28-634C>G | |
| XM_024453203.1:c.-28-634C>G | XP_024308971.1:n.-28-634C>G | |
| XM_024453204.1:c.-28-634C>G | XP_024308972.1:n.-28-634C>G | |
| XM_024453205.1:c.-28-634C>G | XP_024308973.1:n.-28-634C>G | |
| XR_923054.3:n.590-634C>G | ||
| NM_001282399.2:c.-306-634C>G | NP_001269328.1:n.-306-634C>G | |
| NM_001371418.1:c.-28-634C>G | NP_001358347.1:n.-28-634C>G | |
| NM_001371419.1:c.-28-634C>G | NP_001358348.1:n.-28-634C>G | |
| NM_001371420.1:c.-28-634C>G | NP_001358349.1:n.-28-634C>G | |
| NM_001371421.1:c.-550-634C>G | NP_001358350.1:n.-550-634C>G | |
| NM_001371422.1:c.-531-634C>G | NP_001358351.1:n.-531-634C>G | |
| NM_001371423.1:c.-531-634C>G | NP_001358352.1:n.-531-634C>G | |
| NM_001371424.1:c.-365-634C>G | NP_001358353.1:n.-365-634C>G | |
| NM_003855.5:c.-28-634C>G MANE Select | NP_003846.1:n.-28-634C>G |