gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10566703 (MID)
Genomes Max Group AF
0.06749689 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237767806A>G , CM000664.2:g.237767806A>G | GRCh38 |
| NC_000002.11:g.238676449A>G , CM000664.1:g.238676449A>G | GRCh37 |
| NC_000002.10:g.238341188A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698097.1:c.1182-2137A>G | ||
| ENST00000698098.1:c.956-2137A>G | ENSP00000513562.1:n.956-2137A>G | |
| ENST00000308482.14:c.1460-2137A>G MANE Select | ENSP00000310109.9:n.1460-2137A>G | |
| ENST00000308482.13:c.1460-2137A>G | ENSP00000310109.9:n.1460-2137A>G | |
| ENST00000483443.1:n.236-2137A>G | ||
| NM_001137550.1:c.1460-2137A>G | NP_001131022.1:n.1460-2137A>G | |
| NM_001137551.1:c.722-2137A>G | NP_001131023.1:n.722-2137A>G | |
| XM_005246141.3:c.824-2137A>G | XP_005246198.1:n.824-2137A>G | |
| XM_005246142.1:c.752-2137A>G | XP_005246199.1:n.752-2137A>G | |
| XM_011512160.1:c.1556-2137A>G | XP_011510462.1:n.1556-2137A>G | |
| XM_011512161.1:c.1556-2137A>G | XP_011510463.1:n.1556-2137A>G | |
| XM_011512162.1:c.1370-2137A>G | XP_011510464.1:n.1370-2137A>G | |
| XM_011512163.1:c.1298-2137A>G | XP_011510465.1:n.1298-2137A>G | |
| XM_011512164.1:c.752-2137A>G | XP_011510466.1:n.752-2137A>G | |
| XM_011512165.1:c.722-2137A>G | XP_011510467.1:n.722-2137A>G | |
| XM_011512166.1:c.1517-2137A>G | XP_011510468.1:n.1517-2137A>G | |
| XR_923063.1:n.1606-2137A>G | ||
| XM_005246141.4:c.824-2137A>G | XP_005246198.1:n.824-2137A>G | |
| XM_005246142.2:c.752-2137A>G | XP_005246199.1:n.752-2137A>G | |
| XM_017005253.2:c.1523-2137A>G | XP_016860742.1:n.1523-2137A>G | |
| XM_017005254.2:c.1523-2137A>G | XP_016860743.1:n.1523-2137A>G | |
| XM_017005255.2:c.1451-2137A>G | XP_016860744.1:n.1451-2137A>G | |
| XM_017005256.2:c.1337-2137A>G | XP_016860745.1:n.1337-2137A>G | |
| XM_017005257.2:c.1388-2137A>G | XP_016860746.1:n.1388-2137A>G | |
| XM_017005258.2:c.1337-2137A>G | XP_016860747.1:n.1337-2137A>G | |
| XM_017005260.2:c.1163-2137A>G | XP_016860749.1:n.1163-2137A>G | |
| XM_017005261.2:c.1100-2137A>G | XP_016860750.1:n.1100-2137A>G | |
| XM_017005262.2:c.1100-2137A>G | XP_016860751.1:n.1100-2137A>G | |
| XM_017005263.2:c.938-2137A>G | XP_016860752.1:n.938-2137A>G | |
| XR_001739039.2:n.6795A>G | ||
| XR_001739040.1:n.6960A>G | ||
| XR_001739041.2:n.6756A>G | ||
| XR_001739042.2:n.6732A>G | ||
| XR_001739043.1:n.6708A>G | ||
| XR_001739044.2:n.6723A>G | ||
| XR_001739045.2:n.6693A>G | ||
| XR_001739046.1:n.7040A>G | ||
| XR_001739047.2:n.6609A>G | ||
| XR_001739048.1:n.6798A>G | ||
| XR_001739049.2:n.6543A>G | ||
| XR_001739050.2:n.6504A>G | ||
| XR_001739051.2:n.6471A>G | ||
| XR_001739052.2:n.6444A>G | ||
| XR_001739053.1:n.6433A>G | ||
| XR_001739054.1:n.6355A>G | ||
| XR_001739055.2:n.6372A>G | ||
| XR_001739056.2:n.6357A>G | ||
| XR_001739057.1:n.6373A>G | ||
| XR_001739058.1:n.6552A>G | ||
| XR_001739059.2:n.6285A>G | ||
| XR_001739060.1:n.6259A>G | ||
| XR_001739061.1:n.6301A>G | ||
| XR_001739062.1:n.6478A>G | ||
| XR_001739063.1:n.6185A>G | ||
| XR_001739064.1:n.6446A>G | ||
| XR_001739065.1:n.6390A>G | ||
| XR_001739066.1:n.6187A>G | ||
| XR_001739067.1:n.6094A>G | ||
| XR_001739068.1:n.6115A>G | ||
| XR_001739069.1:n.6292A>G | ||
| XR_001739070.1:n.6156A>G | ||
| XR_001739071.1:n.6014A>G | ||
| XR_001739072.1:n.6260A>G | ||
| XR_001739073.2:n.1592-2137A>G | ||
| XR_002959364.1:n.6186A>G | ||
| NM_001137550.2:c.1460-2137A>G MANE Select | NP_001131022.1:n.1460-2137A>G | |
| NM_001137551.2:c.722-2137A>G | NP_001131023.1:n.722-2137A>G |