gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43487503 (EAS)
Genomes Max Group AF
0.43487503 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.39746232T>C , CM000677.2:g.39746232T>C | GRCh38 |
| NC_000015.9:g.40038433T>C , CM000677.1:g.40038433T>C | GRCh37 |
| NC_000015.8:g.37825725T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350221.4:c.560-4332A>G MANE Select | ENSP00000280236.3:n.560-4332A>G | |
| ENST00000350221.3:c.560-4332A>G | ENSP00000280236.3:n.560-4332A>G | |
| ENST00000559692.1:n.146+1070A>G | ||
| NM_152597.4:c.560-4332A>G | NP_689810.3:n.560-4332A>G | |
| XM_005254208.2:c.560-4332A>G | XP_005254265.1:n.560-4332A>G | |
| XM_011521305.1:c.560-4332A>G | XP_011519607.1:n.560-4332A>G | |
| XM_011521306.1:c.560-4332A>G | XP_011519608.1:n.560-4332A>G | |
| XM_011521307.1:c.560-4332A>G | XP_011519609.1:n.560-4332A>G | |
| XM_011521308.1:c.560-4332A>G | XP_011519610.1:n.560-4332A>G | |
| XM_011521309.1:c.560-4332A>G | XP_011519611.1:n.560-4332A>G | |
| XM_011521310.1:c.560-4332A>G | XP_011519612.1:n.560-4332A>G | |
| XM_011521311.1:c.-71-4332A>G | XP_011519613.1:n.-71-4332A>G | |
| NM_001324338.1:c.560-4332A>G | NP_001311267.1:n.560-4332A>G | |
| XM_011521305.3:c.560-4332A>G | XP_011519607.1:n.560-4332A>G | |
| XM_011521306.2:c.560-4332A>G | XP_011519608.1:n.560-4332A>G | |
| XM_011521307.3:c.560-4332A>G | XP_011519609.1:n.560-4332A>G | |
| XM_011521309.3:c.560-4332A>G | XP_011519611.1:n.560-4332A>G | |
| XM_011521311.3:c.-71-4332A>G | XP_011519613.1:n.-71-4332A>G | |
| XM_017021972.2:c.-72+1070A>G | XP_016877461.1:n.-72+1070A>G | |
| NM_152597.5:c.560-4332A>G MANE Select | NP_689810.3:n.560-4332A>G | |
| NM_001324338.2:c.560-4332A>G | NP_001311267.1:n.560-4332A>G |