gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67824266 (NFE)
Genomes Max Group AF
0.67824266 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36366589T>C , CM000684.2:g.36366589T>C | GRCh38 |
| NC_000022.10:g.36762634T>C , CM000684.1:g.36762634T>C | GRCh37 |
| NC_000022.9:g.35092580T>C | NCBI36 |
| NG_011884.2:g.26430A>G , LRG_567:g.26430A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685187.1:n.196-17334A>G | ||
| ENST00000685191.1:n.205-17334A>G | ||
| ENST00000685801.1:c.-19-17334A>G | ENSP00000510688.1:n.-19-17334A>G | |
| ENST00000688137.1:c.-20+3997A>G | ENSP00000510189.1:n.-20+3997A>G | |
| ENST00000691296.1:c.-19-17334A>G | ENSP00000509816.1:n.-19-17334A>G | |
| ENST00000691687.1:n.196-17334A>G | ||
| ENST00000692930.1:n.196-17334A>G | ||
| ENST00000216181.11:c.-19-17334A>G MANE Select | ENSP00000216181.6:n.-19-17334A>G | |
| ENST00000216181.9:c.-19-17334A>G | ENSP00000216181.5:n.-19-17334A>G | |
| NM_002473.5:c.-19-17334A>G , LRG_567t1:c.-19-17334A>G | NP_002464.1:n.-19-17334A>G | |
| XM_017028803.1:c.-19-17334A>G | XP_016884292.1:n.-19-17334A>G | |
| XM_017028804.1:c.-20+3785A>G | XP_016884293.1:n.-20+3785A>G | |
| XM_017028806.1:c.-19-17334A>G | XP_016884295.1:n.-19-17334A>G | |
| NM_002473.6:c.-19-17334A>G MANE Select | NP_002464.1:n.-19-17334A>G |