gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000707 (NFE)
Genomes Max Group AF
0.00006807 (NFE)
Exomes Max Group AF
0.00006703 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.792739G>A , CM000673.2:g.792739G>A | GRCh38 |
| NC_000011.9:g.792739G>A , CM000673.1:g.792739G>A | GRCh37 |
| NC_000011.8:g.782739G>A | NCBI36 |
| NG_023407.1:g.10531C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000628067.3:c.413-12C>T MANE Select | ENSP00000486058.1:n.413-12C>T | |
| ENST00000320230.9:c.413-12C>T | ENSP00000322020.5:n.413-12C>T | |
| ENST00000481290.5:c.488-12C>T | ENSP00000431829.2:n.488-12C>T | |
| ENST00000528606.5:c.413-12C>T | ENSP00000437045.2:n.413-12C>T | |
| ENST00000529351.5:c.*199-12C>T | ENSP00000432222.1:n.*199-12C>T | |
| ENST00000531214.5:c.413-12C>T | ENSP00000437236.1:n.413-12C>T | |
| ENST00000531437.5:c.401-12C>T | ENSP00000435862.1:n.401-12C>T | |
| ENST00000531514.5:c.*199-12C>T | ENSP00000433780.2:n.*199-12C>T | |
| ENST00000531534.5:c.413-12C>T | ENSP00000435402.2:n.413-12C>T | |
| ENST00000532484.5:c.413-12C>T | ENSP00000431466.2:n.413-12C>T | |
| ENST00000533385.5:c.413-12C>T | ENSP00000434287.2:n.413-12C>T | |
| ENST00000625419.2:c.413-12C>T | ENSP00000485719.1:n.413-12C>T | |
| ENST00000627843.2:c.413-12C>T | ENSP00000486512.1:n.413-12C>T | |
| ENST00000628067.2:c.413-12C>T | ENSP00000486058.1:n.413-12C>T | |
| ENST00000630809.2:n.281-12C>T | ||
| NM_001191060.1:c.413-12C>T | NP_001177989.1:n.413-12C>T | |
| NM_001191061.1:c.413-12C>T | NP_001177990.1:n.413-12C>T | |
| NM_024698.5:c.413-12C>T | NP_078974.1:n.413-12C>T | |
| XM_011520369.1:c.413-12C>T | XP_011518671.1:n.413-12C>T | |
| XM_011520370.1:c.413-12C>T | XP_011518672.1:n.413-12C>T | |
| XM_011520371.1:c.413-12C>T | XP_011518673.1:n.413-12C>T | |
| XM_011520370.2:c.413-12C>T | XP_011518672.1:n.413-12C>T | |
| XM_011520371.2:c.413-12C>T | XP_011518673.1:n.413-12C>T | |
| XM_024448687.1:c.413-12C>T | XP_024304455.1:n.413-12C>T | |
| XM_024448688.1:c.413-12C>T | XP_024304456.1:n.413-12C>T | |
| XM_024448689.1:c.413-12C>T | XP_024304457.1:n.413-12C>T | |
| NM_001191061.2:c.413-12C>T MANE Select | NP_001177990.1:n.413-12C>T | |
| NM_024698.6:c.413-12C>T | NP_078974.1:n.413-12C>T | |
| NM_001191060.2:c.413-12C>T | NP_001177989.1:n.413-12C>T |