gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47079741 (NFE)
Genomes Max Group AF
0.47079741 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.212953223G>A , CM000663.2:g.212953223G>A | GRCh38 |
| NC_000001.10:g.213126565G>A , CM000663.1:g.213126565G>A | GRCh37 |
| NC_000001.9:g.211193188G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517399.3:c.276+1405G>A MANE Select | ENSP00000428324.1:n.276+1405G>A | |
| ENST00000271776.4:n.100+2483G>A | ||
| ENST00000366964.7:c.276+1405G>A | ENSP00000355931.4:n.276+1405G>A | |
| ENST00000366965.6:c.276+1405G>A | ENSP00000355932.2:n.276+1405G>A | |
| ENST00000366966.6:c.81+1405G>A | ENSP00000430319.1:n.81+1405G>A | |
| ENST00000366967.6:c.-37+2483G>A | ENSP00000429040.1:n.-37+2483G>A | |
| ENST00000366968.8:c.81+1405G>A | ENSP00000355935.4:n.81+1405G>A | |
| ENST00000517399.2:c.276+1405G>A | ENSP00000428324.1:n.276+1405G>A | |
| NM_001136474.2:c.81+1405G>A | NP_001129946.1:n.81+1405G>A | |
| NM_001136475.2:c.-37+2483G>A | NP_001129947.1:n.-37+2483G>A | |
| NM_001301056.1:c.276+1405G>A | NP_001287985.1:n.276+1405G>A | |
| NM_024749.4:c.276+1405G>A | NP_079025.2:n.276+1405G>A | |
| XM_011509987.1:c.276+1405G>A | XP_011508289.1:n.276+1405G>A | |
| XM_011509988.1:c.276+1405G>A | XP_011508290.1:n.276+1405G>A | |
| XM_011509989.1:c.276+1405G>A | XP_011508291.1:n.276+1405G>A | |
| XM_011509990.1:c.276+1405G>A | XP_011508292.1:n.276+1405G>A | |
| XM_011509992.1:c.-37+2483G>A | XP_011508294.1:n.-37+2483G>A | |
| XM_011509993.1:c.-37+654G>A | XP_011508295.1:n.-37+654G>A | |
| XM_011509994.1:c.276+1405G>A | XP_011508296.1:n.276+1405G>A | |
| XM_011509996.1:c.276+1405G>A | XP_011508298.1:n.276+1405G>A | |
| XM_011509998.1:c.276+1405G>A | XP_011508300.1:n.276+1405G>A | |
| XR_921938.1:n.679+1405G>A | ||
| XR_921939.1:n.679+1405G>A | ||
| XR_921940.1:n.679+1405G>A | ||
| XR_921941.1:n.679+1405G>A | ||
| XR_921942.1:n.679+1405G>A | ||
| XR_921943.1:n.679+1405G>A | ||
| XR_921945.1:n.679+1405G>A | ||
| XR_921946.1:n.679+1405G>A | ||
| XR_921948.1:n.662+2483G>A | ||
| XM_011509987.3:c.276+1405G>A | XP_011508289.1:n.276+1405G>A | |
| XM_011509988.3:c.276+1405G>A | XP_011508290.1:n.276+1405G>A | |
| XM_011509989.2:c.276+1405G>A | XP_011508291.1:n.276+1405G>A | |
| XM_011509994.2:c.276+1405G>A | XP_011508296.1:n.276+1405G>A | |
| XM_017002351.2:c.-37+654G>A | XP_016857840.1:n.-37+654G>A | |
| XM_017002352.2:c.-200+2483G>A | XP_016857841.1:n.-200+2483G>A | |
| XR_001737419.1:n.679+1405G>A | ||
| XR_921940.2:n.679+1405G>A | ||
| XR_921941.2:n.679+1405G>A | ||
| NM_001136474.3:c.81+1405G>A | NP_001129946.1:n.81+1405G>A | |
| NM_001136475.3:c.-37+2483G>A | NP_001129947.1:n.-37+2483G>A | |
| NM_001301056.2:c.276+1405G>A MANE Select | NP_001287985.1:n.276+1405G>A | |
| NM_024749.5:c.276+1405G>A | NP_079025.2:n.276+1405G>A |