gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35063444 (NFE)
Genomes Max Group AF
0.35063444 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36234993T>C , CM000684.2:g.36234993T>C | GRCh38 |
| NC_000022.10:g.36631039T>C , CM000684.1:g.36631039T>C | GRCh37 |
| NC_000022.9:g.34960985T>C | NCBI36 |
| NG_023229.2:g.9962A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358502.10:c.-133-1538A>G MANE Select | ENSP00000351292.5:n.-133-1538A>G | |
| ENST00000249066.10:c.-133-1538A>G | ENSP00000249066.6:n.-133-1538A>G | |
| ENST00000358502.9:c.-133-1538A>G | ENSP00000351292.5:n.-133-1538A>G | |
| ENST00000451256.6:c.204-1538A>G | ENSP00000403153.2:n.204-1538A>G | |
| ENST00000454728.5:c.-233-658A>G | ENSP00000400486.1:n.-233-658A>G | |
| ENST00000529194.5:c.-133-1538A>G | ENSP00000431231.1:n.-133-1538A>G | |
| NM_030882.3:c.-133-1538A>G | NP_112092.2:n.-133-1538A>G | |
| NM_145637.2:c.-133-1538A>G | NP_663612.2:n.-133-1538A>G | |
| XM_011530074.1:c.-133-1538A>G | XP_011528376.1:n.-133-1538A>G | |
| XM_011530075.1:c.-133-1538A>G | XP_011528377.1:n.-133-1538A>G | |
| XM_011530076.1:c.-233-658A>G | XP_011528378.1:n.-233-658A>G | |
| XM_011530077.1:c.-133-1538A>G | XP_011528379.1:n.-133-1538A>G | |
| XM_011530078.1:c.-233-658A>G | XP_011528380.1:n.-233-658A>G | |
| XM_011530076.3:c.-233-658A>G | XP_011528378.1:n.-233-658A>G | |
| XM_011530077.3:c.-133-1538A>G | XP_011528379.1:n.-133-1538A>G | |
| XM_017028724.1:c.204-1538A>G | XP_016884213.1:n.204-1538A>G | |
| NM_030882.4:c.-133-1538A>G MANE Select | NP_112092.2:n.-133-1538A>G | |
| NM_145637.3:c.-133-1538A>G | NP_663612.2:n.-133-1538A>G |