gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38133416 (SAS)
Genomes Max Group AF
0.38133416 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43539609G>A , CM000663.2:g.43539609G>A | GRCh38 |
| NC_000001.10:g.44005280G>A , CM000663.1:g.44005280G>A | GRCh37 |
| NC_000001.9:g.43777867G>A | NCBI36 |
| NG_047072.1:g.22372G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359947.9:c.-46+1332G>A MANE Select | ENSP00000353030.4:n.-46+1332G>A | |
| ENST00000359947.8:c.-46+1332G>A | ENSP00000353030.4:n.-46+1332G>A | |
| ENST00000372405.1:n.80+1332G>A | ||
| ENST00000436724.5:n.268+1332G>A | ||
| ENST00000438120.5:c.-46+1332G>A | ENSP00000398822.1:n.-46+1332G>A | |
| ENST00000481019.5:n.275+1332G>A | ||
| ENST00000496043.5:n.251+1332G>A | ||
| ENST00000617451.4:c.-46+1332G>A | ENSP00000483557.1:n.-46+1332G>A | |
| NM_002840.3:c.-46+1332G>A | NP_002831.2:n.-46+1332G>A | |
| NM_130440.2:c.-46+1332G>A | NP_569707.2:n.-46+1332G>A | |
| XM_005271079.2:c.-46+1332G>A | XP_005271136.1:n.-46+1332G>A | |
| XM_005271080.2:c.-46+1332G>A | XP_005271137.1:n.-46+1332G>A | |
| XM_005271081.2:c.-46+1332G>A | XP_005271138.1:n.-46+1332G>A | |
| XM_005271082.2:c.-46+1332G>A | XP_005271139.1:n.-46+1332G>A | |
| XM_006710795.2:c.-46+1332G>A | XP_006710858.1:n.-46+1332G>A | |
| XM_006710796.2:c.-46+1332G>A | XP_006710859.1:n.-46+1332G>A | |
| XM_006710797.2:c.-46+1332G>A | XP_006710860.1:n.-46+1332G>A | |
| XM_006710798.2:c.-46+1332G>A | XP_006710861.1:n.-46+1332G>A | |
| XM_006710799.2:c.-46+1332G>A | XP_006710862.1:n.-46+1332G>A | |
| XM_006710800.2:c.-46+1332G>A | XP_006710863.1:n.-46+1332G>A | |
| XM_006710801.2:c.-46+1332G>A | XP_006710864.1:n.-46+1332G>A | |
| XM_011541871.1:c.-46+1332G>A | XP_011540173.1:n.-46+1332G>A | |
| XM_011541872.1:c.-46+1332G>A | XP_011540174.1:n.-46+1332G>A | |
| XM_011541873.1:c.-46+1332G>A | XP_011540175.1:n.-46+1332G>A | |
| NM_001329137.1:c.-46+1332G>A | NP_001316066.1:n.-46+1332G>A | |
| NM_001329138.1:c.-46+1332G>A | NP_001316067.1:n.-46+1332G>A | |
| NM_001329139.1:c.-46+1332G>A | NP_001316068.1:n.-46+1332G>A | |
| NM_001329140.1:c.-46+1332G>A | NP_001316069.1:n.-46+1332G>A | |
| NM_002840.4:c.-46+1332G>A | NP_002831.2:n.-46+1332G>A | |
| NM_130440.3:c.-46+1332G>A | NP_569707.2:n.-46+1332G>A | |
| XM_005271079.3:c.-46+1332G>A | XP_005271136.1:n.-46+1332G>A | |
| XM_005271080.3:c.-46+1332G>A | XP_005271137.1:n.-46+1332G>A | |
| XM_005271081.3:c.-46+1332G>A | XP_005271138.1:n.-46+1332G>A | |
| XM_005271082.3:c.-46+1332G>A | XP_005271139.1:n.-46+1332G>A | |
| XM_006710795.3:c.-46+1332G>A | XP_006710858.1:n.-46+1332G>A | |
| XM_006710796.3:c.-46+1332G>A | XP_006710859.1:n.-46+1332G>A | |
| XM_006710797.3:c.-46+1332G>A | XP_006710860.1:n.-46+1332G>A | |
| XM_006710798.3:c.-46+1332G>A | XP_006710861.1:n.-46+1332G>A | |
| XM_006710799.3:c.-46+1332G>A | XP_006710862.1:n.-46+1332G>A | |
| XM_006710800.3:c.-46+1332G>A | XP_006710863.1:n.-46+1332G>A | |
| XM_006710801.3:c.-46+1332G>A | XP_006710864.1:n.-46+1332G>A | |
| XM_011541871.3:c.-46+1332G>A | XP_011540173.1:n.-46+1332G>A | |
| XM_011541872.3:c.-46+1332G>A | XP_011540174.1:n.-46+1332G>A | |
| XM_011541873.2:c.-46+1332G>A | XP_011540175.1:n.-46+1332G>A | |
| XM_017001943.1:c.-46+1332G>A | XP_016857432.1:n.-46+1332G>A | |
| XM_017001944.1:c.-46+1332G>A | XP_016857433.1:n.-46+1332G>A | |
| XM_017001945.1:c.-46+1332G>A | XP_016857434.1:n.-46+1332G>A | |
| XM_017001946.1:c.-46+1332G>A | XP_016857435.1:n.-46+1332G>A | |
| XM_017001949.1:c.-46+1332G>A | XP_016857438.1:n.-46+1332G>A | |
| NM_002840.5:c.-46+1332G>A MANE Select | NP_002831.2:n.-46+1332G>A | |
| NM_001329137.2:c.-46+1332G>A | NP_001316066.1:n.-46+1332G>A | |
| NM_001329138.2:c.-46+1332G>A | NP_001316067.1:n.-46+1332G>A | |
| NM_001329139.2:c.-46+1332G>A | NP_001316068.1:n.-46+1332G>A | |
| NM_001329140.2:c.-46+1332G>A | NP_001316069.1:n.-46+1332G>A | |
| NM_130440.4:c.-46+1332G>A | NP_569707.2:n.-46+1332G>A |