gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2663769 (AFR)
Genomes Max Group AF
0.2663769 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.20374104C>A , CM000667.2:g.20374104C>A | GRCh38 |
| NC_000005.9:g.20374213C>A , CM000667.1:g.20374213C>A | GRCh37 |
| NC_000005.8:g.20409970C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507632.2:n.403-118599G>T | ||
| ENST00000507958.5:c.-579-118599G>T | ENSP00000425093.1:n.-579-118599G>T | |
| NM_001291956.1:c.-579-118599G>T | NP_001278885.1:n.-579-118599G>T | |
| XM_005248228.2:c.-318-118599G>T | XP_005248285.1:n.-318-118599G>T | |
| NM_001291956.2:c.-579-118599G>T | NP_001278885.1:n.-579-118599G>T | |
| NM_001349556.1:c.-433-118599G>T | NP_001336485.1:n.-433-118599G>T | |
| NM_001349558.1:c.-727-35865G>T | NP_001336487.1:n.-727-35865G>T | |
| NM_001349562.1:c.-1076-118599G>T | NP_001336491.1:n.-1076-118599G>T | |
| XM_005248228.4:c.-318-118599G>T | XP_005248285.1:n.-318-118599G>T | |
| XM_017008924.2:c.-437-118599G>T | XP_016864413.1:n.-437-118599G>T | |
| XM_017008926.2:c.-438+114243G>T | XP_016864415.1:n.-438+114243G>T | |
| XM_017008928.2:c.-438+114243G>T | XP_016864417.1:n.-438+114243G>T | |
| NM_001291956.3:c.-579-118599G>T | NP_001278885.1:n.-579-118599G>T | |
| NM_001349556.2:c.-433-118599G>T | NP_001336485.1:n.-433-118599G>T | |
| NM_001349558.2:c.-727-35865G>T | NP_001336487.1:n.-727-35865G>T | |
| NM_001349562.2:c.-1076-118599G>T | NP_001336491.1:n.-1076-118599G>T |