gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.73140731 (EAS)
Genomes Max Group AF
0.73140731 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.7496689T>G , CM000665.2:g.7496689T>G | GRCh38 |
| NC_000003.11:g.7538376T>G , CM000665.1:g.7538376T>G | GRCh37 |
| NC_000003.10:g.7513376T>G | NCBI36 |
| NG_029781.1:g.640575T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706912.1:c.996+34967T>G | ENSP00000516621.1:n.996+34967T>G | |
| ENST00000706913.1:c.30+34967T>G | ENSP00000516622.1:n.30+34967T>G | |
| ENST00000357716.9:c.1515+34967T>G MANE Select | ENSP00000350348.4:n.1515+34967T>G | |
| ENST00000357716.8:c.1515+34967T>G | ENSP00000350348.4:n.1515+34967T>G | |
| ENST00000389335.7:c.1515+34967T>G | ENSP00000373986.3:n.1515+34967T>G | |
| ENST00000389336.8:c.1515+34967T>G | ENSP00000373987.4:n.1515+34967T>G | |
| ENST00000402647.6:c.780+34967T>G | ENSP00000384585.4:n.780+34967T>G | |
| ENST00000440923.7:c.1515+34967T>G | ENSP00000412329.3:n.1515+34967T>G | |
| ENST00000445087.1:c.486+34967T>G | ENSP00000395035.1:n.486+34967T>G | |
| ENST00000458641.2:n.380+34967T>G | ||
| ENST00000463676.6:n.780+34967T>G | ||
| ENST00000467425.5:c.1515+34967T>G | ENSP00000419835.1:n.1515+34967T>G | |
| ENST00000486284.5:c.1515+34967T>G | ENSP00000417536.1:n.1515+34967T>G | |
| NM_000844.3:c.1515+34967T>G | NP_000835.1:n.1515+34967T>G | |
| NM_181874.2:c.1515+34967T>G | NP_870989.1:n.1515+34967T>G | |
| XM_011533648.1:c.396+34967T>G | XP_011531950.1:n.396+34967T>G | |
| XR_940422.1:n.1807+34967T>G | ||
| XM_017006272.1:c.1017+34967T>G | XP_016861761.1:n.1017+34967T>G | |
| XM_017006273.1:c.1017+34967T>G | XP_016861762.1:n.1017+34967T>G | |
| XM_024453492.1:c.264+34967T>G | XP_024309260.1:n.264+34967T>G | |
| XM_024453493.1:c.264+34967T>G | XP_024309261.1:n.264+34967T>G | |
| XM_024453494.1:c.264+34967T>G | XP_024309262.1:n.264+34967T>G | |
| XM_024453495.1:c.264+34967T>G | XP_024309263.1:n.264+34967T>G | |
| XM_024453497.1:c.264+34967T>G | XP_024309265.1:n.264+34967T>G | |
| XM_024453498.1:c.264+34967T>G | XP_024309266.1:n.264+34967T>G | |
| XR_001740134.2:n.1789+34967T>G | ||
| XR_001740135.2:n.1789+34967T>G | ||
| XR_001740136.2:n.1789+34967T>G | ||
| XR_001740137.2:n.1789+34967T>G | ||
| NM_000844.4:c.1515+34967T>G MANE Select | NP_000835.1:n.1515+34967T>G | |
| NM_181874.3:c.1515+34967T>G | NP_870989.1:n.1515+34967T>G |