gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.79380356 (EAS)
Genomes Max Group AF
0.79118221 (EAS)
Exomes Max Group AF
0.78189693 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.58227849G>C , CM000680.2:g.58227849G>C | GRCh38 |
| NC_000018.9:g.55895081G>C , CM000680.1:g.55895081G>C | GRCh37 |
| NC_000018.8:g.54046061G>C | NCBI36 |
| NG_029954.1:g.188472G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400345.8:c.123-17578G>C MANE Select | ENSP00000383199.2:n.123-17578G>C | |
| ENST00000674613.1:n.98-17578G>C | ||
| ENST00000674845.1:c.*629-17578G>C | ENSP00000502309.1:n.*629-17578G>C | |
| ENST00000675137.1:n.245-17578G>C | ||
| ENST00000675147.1:c.102-17578G>C | ENSP00000501840.1:n.102-17578G>C | |
| ENST00000675221.1:c.48-17578G>C | ENSP00000502761.1:n.48-17578G>C | |
| ENST00000675502.1:c.-241-17578G>C | ENSP00000502428.1:n.-241-17578G>C | |
| ENST00000675801.1:c.-241-17578G>C | ENSP00000502688.1:n.-241-17578G>C | |
| ENST00000675865.1:c.-159-21050G>C | ENSP00000502003.1:n.-159-21050G>C | |
| ENST00000676024.1:c.123-17578G>C | ENSP00000502105.1:n.123-17578G>C | |
| ENST00000676223.1:c.84-17578G>C | ENSP00000502361.1:n.84-17578G>C | |
| ENST00000676226.1:c.-202-17578G>C | ENSP00000502325.1:n.-202-17578G>C | |
| ENST00000676251.1:n.305-17578G>C | ||
| ENST00000256830.13:c.123-17578G>C | ENSP00000256830.8:n.123-17578G>C | |
| ENST00000356462.10:c.123-17578G>C | ENSP00000348847.5:n.123-17578G>C | |
| ENST00000357895.9:c.99-17578G>C | ENSP00000350569.4:n.99-17578G>C | |
| ENST00000382850.8:c.123-17578G>C | ENSP00000372301.3:n.123-17578G>C | |
| ENST00000400345.7:c.123-17578G>C | ENSP00000383199.2:n.123-17578G>C | |
| ENST00000431212.6:c.-242+6092G>C | ENSP00000389406.1:n.-242+6092G>C | |
| ENST00000435432.6:c.-300G>C | ENSP00000393395.1:n.-300G>C | |
| ENST00000456173.6:c.-241-17578G>C | ENSP00000405440.1:n.-241-17578G>C | |
| ENST00000456986.5:c.-241-17578G>C | ENSP00000411947.1:n.-241-17578G>C | |
| ENST00000585323.5:n.147G>C | ||
| ENST00000585363.5:n.160-17578G>C | ||
| ENST00000586263.5:c.99-17578G>C | ENSP00000468546.1:n.99-17578G>C | |
| ENST00000586268.5:c.-191+6092G>C | ENSP00000467072.1:n.-191+6092G>C | |
| ENST00000587190.5:c.-300G>C | ENSP00000467768.1:n.-300G>C | |
| ENST00000588066.5:n.102-17578G>C | ||
| ENST00000588494.5:c.-300G>C | ENSP00000466789.1:n.-300G>C | |
| ENST00000588516.5:n.1223-17578G>C | ||
| ENST00000589054.5:c.49-162797G>C | ENSP00000465669.1:n.49-162797G>C | |
| ENST00000591989.5:n.171-17578G>C | ||
| ENST00000592846.5:c.-281G>C | ENSP00000466776.1:n.-281G>C | |
| NM_001144964.1:c.-241-17578G>C | NP_001138436.1:n.-241-17578G>C | |
| NM_001144965.1:c.-241-17578G>C | NP_001138437.1:n.-241-17578G>C | |
| NM_001144966.2:c.-242+6092G>C | NP_001138438.1:n.-242+6092G>C | |
| NM_001144967.2:c.123-17578G>C | NP_001138439.1:n.123-17578G>C | |
| NM_001144968.1:c.99-17578G>C | NP_001138440.1:n.99-17578G>C | |
| NM_001144969.1:c.99-17578G>C | NP_001138441.1:n.99-17578G>C | |
| NM_001144970.2:c.-241-17578G>C | NP_001138442.1:n.-241-17578G>C | |
| NM_001144971.1:c.-300G>C | NP_001138443.1:n.-300G>C | |
| NM_001243960.1:c.123-17578G>C | NP_001230889.1:n.123-17578G>C | |
| NM_015277.5:c.123-17578G>C | NP_056092.2:n.123-17578G>C | |
| XM_006722426.2:c.142G>C | XP_006722489.1:p.Glu48Gln | |
| XM_006722428.2:c.123-17578G>C | XP_006722491.1:n.123-17578G>C | |
| XM_006722430.2:c.-241-17578G>C | XP_006722493.1:n.-241-17578G>C | |
| XM_011525887.1:c.118G>C | XP_011524189.1:p.Glu40Gln | |
| XM_006722426.4:c.142G>C | XP_006722489.1:p.Glu48Gln | |
| XM_006722428.4:c.123-17578G>C | XP_006722491.1:n.123-17578G>C | |
| XM_006722430.4:c.-241-17578G>C | XP_006722493.1:n.-241-17578G>C | |
| XM_011525887.3:c.118G>C | XP_011524189.1:p.Glu40Gln | |
| XM_017025678.2:c.123-17578G>C | XP_016881167.1:n.123-17578G>C | |
| XM_017025679.2:c.-241-17578G>C | XP_016881168.1:n.-241-17578G>C | |
| XM_017025680.2:c.-241-17578G>C | XP_016881169.1:n.-241-17578G>C | |
| XM_017025681.2:c.-241-17578G>C | XP_016881170.1:n.-241-17578G>C | |
| XM_024451129.1:c.-300G>C | XP_024306897.1:n.-300G>C | |
| XM_024451130.1:c.-300G>C | XP_024306898.1:n.-300G>C | |
| XM_024451131.1:c.-241-17578G>C | XP_024306899.1:n.-241-17578G>C | |
| XM_024451132.1:c.-300G>C | XP_024306900.1:n.-300G>C | |
| XM_024451133.1:c.-242+6092G>C | XP_024306901.1:n.-242+6092G>C | |
| XM_024451134.1:c.-281G>C | XP_024306902.1:n.-281G>C | |
| XM_024451135.1:c.-241-17578G>C | XP_024306903.1:n.-241-17578G>C | |
| XM_024451136.1:c.-241-17578G>C | XP_024306904.1:n.-241-17578G>C | |
| XM_024451137.1:c.-300G>C | XP_024306905.1:n.-300G>C | |
| NM_001144967.3:c.123-17578G>C MANE Select | NP_001138439.1:n.123-17578G>C | |
| NM_001144965.2:c.-241-17578G>C | NP_001138437.1:n.-241-17578G>C | |
| NM_001144966.3:c.-242+6092G>C | NP_001138438.1:n.-242+6092G>C | |
| NM_001144968.2:c.99-17578G>C | NP_001138440.1:n.99-17578G>C | |
| NM_001144969.2:c.99-17578G>C | NP_001138441.1:n.99-17578G>C | |
| NM_001144970.3:c.-241-17578G>C | NP_001138442.1:n.-241-17578G>C | |
| NM_001144971.2:c.-300G>C | NP_001138443.1:n.-300G>C | |
| NM_001243960.2:c.123-17578G>C | NP_001230889.1:n.123-17578G>C | |
| NM_015277.6:c.123-17578G>C | NP_056092.2:n.123-17578G>C |