gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53171159 (SAS)
Genomes Max Group AF
0.51803265 (SAS)
Exomes Max Group AF
0.53196227 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.63203689T>C , CM000672.2:g.63203689T>C | GRCh38 |
| NC_000010.10:g.64963449T>C , CM000672.1:g.64963449T>C | GRCh37 |
| NC_000010.9:g.64633455T>C | NCBI36 |
| NG_053187.1:g.323387A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399262.7:c.5074+2906A>G MANE Select | ENSP00000382204.2:n.5074+2906A>G | |
| ENST00000639129.1:c.4528+2906A>G | ENSP00000491195.1:n.4528+2906A>G | |
| ENST00000327520.7:c.1131+2906A>G | ||
| ENST00000399262.6:c.5074+2906A>G | ENSP00000382204.2:n.5074+2906A>G | |
| ENST00000402544.5:n.5046+2906A>G | ||
| ENST00000542921.5:c.4528+2906A>G | ENSP00000444682.1:n.4528+2906A>G | |
| NM_001282948.1:c.4528+2906A>G | NP_001269877.1:n.4528+2906A>G | |
| NM_032776.2:c.5074+2906A>G | NP_116165.1:n.5074+2906A>G | |
| XM_005269624.2:c.4417+2906A>G | XP_005269681.1:n.4417+2906A>G | |
| XM_005269626.2:c.4210+2906A>G | XP_005269683.1:n.4210+2906A>G | |
| XM_011539502.1:c.4453+2906A>G | XP_011537804.1:n.4453+2906A>G | |
| XM_011539503.1:c.4528+2906A>G | XP_011537805.1:n.4528+2906A>G | |
| XM_011539504.1:c.4528+2906A>G | XP_011537806.1:n.4528+2906A>G | |
| XM_011539505.1:c.4417+2906A>G | XP_011537807.1:n.4417+2906A>G | |
| XM_011539506.1:c.4210+2906A>G | XP_011537808.1:n.4210+2906A>G | |
| XM_011539507.1:c.4528+2906A>G | XP_011537809.1:n.4528+2906A>G | |
| XM_011539508.1:c.*1315A>G | XP_011537810.1:n.*1315A>G | |
| XR_945628.1:n.4906+2906A>G | ||
| XR_945629.1:n.4906+2906A>G | ||
| NM_001318153.1:c.4210+2906A>G | NP_001305082.1:n.4210+2906A>G | |
| NM_001318154.1:c.4528+2906A>G | NP_001305083.1:n.4528+2906A>G | |
| NM_001322252.1:c.4960+2906A>G | NP_001309181.1:n.4960+2906A>G | |
| NM_001322254.1:c.4417+2906A>G | NP_001309183.1:n.4417+2906A>G | |
| NM_001322258.1:c.4417+2906A>G | NP_001309187.1:n.4417+2906A>G | |
| NR_134512.1:n.5082+2906A>G | ||
| XM_011539508.2:c.*1315A>G | XP_011537810.1:n.*1315A>G | |
| XM_017015897.1:c.4528+2906A>G | XP_016871386.1:n.4528+2906A>G | |
| XM_017015898.1:c.4528+2906A>G | XP_016871387.1:n.4528+2906A>G | |
| XM_017015899.1:c.4210+2906A>G | XP_016871388.1:n.4210+2906A>G | |
| XM_017015900.1:c.4210+2906A>G | XP_016871389.1:n.4210+2906A>G | |
| XM_017015901.1:c.4210+2906A>G | XP_016871390.1:n.4210+2906A>G | |
| XM_017015902.1:c.4210+2906A>G | XP_016871391.1:n.4210+2906A>G | |
| XM_017015903.1:c.4210+2906A>G | XP_016871392.1:n.4210+2906A>G | |
| XM_024447882.1:c.4417+2906A>G | XP_024303650.1:n.4417+2906A>G | |
| XM_024447883.1:c.4417+2906A>G | XP_024303651.1:n.4417+2906A>G | |
| NM_032776.3:c.5074+2906A>G MANE Select | NP_116165.1:n.5074+2906A>G | |
| NM_001318153.2:c.4210+2906A>G | NP_001305082.1:n.4210+2906A>G | |
| NM_001318154.2:c.4528+2906A>G | NP_001305083.1:n.4528+2906A>G | |
| NM_001322252.2:c.4960+2906A>G | NP_001309181.1:n.4960+2906A>G | |
| NM_001322254.2:c.4417+2906A>G | NP_001309183.1:n.4417+2906A>G | |
| NM_001322258.2:c.4417+2906A>G | NP_001309187.1:n.4417+2906A>G | |
| NM_001282948.2:c.4528+2906A>G | NP_001269877.1:n.4528+2906A>G | |
| NR_134512.2:n.5102+2906A>G |