gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61026342 (EAS)
Genomes Max Group AF
0.61026342 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18456229C>T , CM000681.2:g.18456229C>T | GRCh38 |
| NC_000019.9:g.18567039C>T , CM000681.1:g.18567039C>T | GRCh37 |
| NC_000019.8:g.18428039C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262809.9:c.869+1976G>A MANE Select | ENSP00000262809.3:n.869+1976G>A | |
| ENST00000262809.8:c.869+1976G>A | ENSP00000262809.3:n.869+1976G>A | |
| ENST00000594635.6:c.*704+1976G>A | ENSP00000475681.2:n.*704+1976G>A | |
| ENST00000596124.3:c.470+1976G>A | ENSP00000475648.2:n.470+1976G>A | |
| NM_006532.3:c.869+1976G>A | NP_006523.1:n.869+1976G>A | |
| XM_011528330.1:c.1134G>A | XP_011526632.1:p.Pro378= | |
| XR_936207.1:n.1148+60G>A | ||
| XM_011528330.3:c.1018+116G>A | XP_011526632.2:n.1018+116G>A | |
| XM_017027335.1:c.470+1976G>A | XP_016882824.1:n.470+1976G>A | |
| XM_017027336.1:c.116+1976G>A | XP_016882825.1:n.116+1976G>A | |
| XM_017027337.2:c.18-4581G>A | XP_016882826.1:n.18-4581G>A | |
| XR_001753769.2:n.1079+60G>A | ||
| XR_936207.3:n.1079+60G>A | ||
| NM_006532.4:c.869+1976G>A MANE Select | NP_006523.1:n.869+1976G>A |