gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16238976 (EAS)
Genomes Max Group AF
0.16238976 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42564117A>G , CM000663.2:g.42564117A>G | GRCh38 |
| NC_000001.10:g.43029788A>G , CM000663.1:g.43029788A>G | GRCh37 |
| NC_000001.9:g.42802375A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000657597.2:c.1141-2179A>G MANE Select | ENSP00000499662.2:n.1141-2179A>G | |
| ENST00000340612.6:c.805-2179A>G | ENSP00000340378.5:n.805-2179A>G | |
| ENST00000471390.6:n.777-2179A>G | ||
| ENST00000477155.6:c.*1219-2179A>G | ENSP00000421479.3:n.*1219-2179A>G | |
| ENST00000509712.6:c.970-2179A>G | ||
| ENST00000653735.1:c.326-2179A>G | ||
| ENST00000654604.1:c.583-2179A>G | ENSP00000499713.1:n.583-2179A>G | |
| ENST00000655164.1:c.457-2179A>G | ENSP00000499756.1:n.457-2179A>G | |
| ENST00000657597.1:c.1144-2179A>G | ENSP00000499662.1:n.1144-2179A>G | |
| ENST00000658812.1:c.*356-2179A>G | ENSP00000499738.1:n.*356-2179A>G | |
| ENST00000660083.1:c.457-2179A>G | ENSP00000499483.1:n.457-2179A>G | |
| ENST00000660910.1:n.243-2179A>G | ||
| ENST00000660938.1:c.457-2179A>G | ENSP00000499261.1:n.457-2179A>G | |
| ENST00000661864.1:c.457-2179A>G | ENSP00000499424.1:n.457-2179A>G | |
| ENST00000663155.1:n.1201-2179A>G | ||
| ENST00000663866.1:c.457-2179A>G | ENSP00000499305.1:n.457-2179A>G | |
| ENST00000664192.1:c.*356-2179A>G | ENSP00000499799.1:n.*356-2179A>G | |
| ENST00000664418.1:c.*434-2179A>G | ENSP00000499489.1:n.*434-2179A>G | |
| ENST00000664805.1:c.457-2179A>G | ENSP00000499336.1:n.457-2179A>G | |
| ENST00000665176.1:c.457-2179A>G | ENSP00000499388.1:n.457-2179A>G | |
| ENST00000665792.1:n.1103-2179A>G | ||
| ENST00000665812.1:c.*92-2179A>G | ENSP00000499766.1:n.*92-2179A>G | |
| ENST00000666893.1:c.568-2179A>G | ||
| ENST00000667205.1:c.457-2179A>G | ENSP00000499722.1:n.457-2179A>G | |
| ENST00000668663.1:c.457-2179A>G | ENSP00000499699.1:n.457-2179A>G | |
| ENST00000669138.1:c.*13-2179A>G | ENSP00000499594.1:n.*13-2179A>G | |
| ENST00000670783.1:c.*356-2179A>G | ENSP00000499286.1:n.*356-2179A>G | |
| ENST00000670982.1:c.457-2179A>G | ENSP00000499317.1:n.457-2179A>G | |
| ENST00000671281.1:c.457-2179A>G | ENSP00000499366.1:n.457-2179A>G | |
| ENST00000671538.1:c.899-2179A>G | ||
| ENST00000340612.4:c.676-2179A>G | ENSP00000340378.3:n.676-2179A>G | |
| ENST00000342022.8:c.676-2179A>G | ENSP00000339280.4:n.676-2179A>G | |
| ENST00000428554.6:c.676-2179A>G | ENSP00000397035.2:n.676-2179A>G | |
| ENST00000471390.5:c.*589-2179A>G | ENSP00000424339.1:n.*589-2179A>G | |
| ENST00000477155.5:c.-231-2179A>G | ENSP00000421479.2:n.-231-2179A>G | |
| ENST00000507855.5:c.43-2179A>G | ENSP00000426711.1:n.43-2179A>G | |
| ENST00000509712.5:c.538-2179A>G | ENSP00000424370.1:n.538-2179A>G | |
| ENST00000514642.1:n.30-2179A>G | ||
| NM_001080850.2:c.676-2179A>G | NP_001074319.1:n.676-2179A>G | |
| XM_011542066.1:c.877-2179A>G | XP_011540368.1:n.877-2179A>G | |
| XM_011542067.1:c.676-2179A>G | XP_011540369.1:n.676-2179A>G | |
| XM_011542068.1:c.676-2179A>G | XP_011540370.1:n.676-2179A>G | |
| XM_011542069.1:c.538-2179A>G | XP_011540371.1:n.538-2179A>G | |
| XM_011542070.1:c.487-2179A>G | XP_011540372.1:n.487-2179A>G | |
| XM_011542071.1:c.118-2179A>G | XP_011540373.1:n.118-2179A>G | |
| NM_001080850.3:c.676-2179A>G | NP_001074319.1:n.676-2179A>G | |
| NM_001355224.1:c.-231-2179A>G | NP_001342153.1:n.-231-2179A>G | |
| NM_001355226.1:c.-231-2179A>G | NP_001342155.1:n.-231-2179A>G | |
| NM_001355227.1:c.-231-2179A>G | NP_001342156.1:n.-231-2179A>G | |
| XM_011542068.3:c.676-2179A>G | XP_011540370.1:n.676-2179A>G | |
| XM_011542069.2:c.538-2179A>G | XP_011540371.1:n.538-2179A>G | |
| XM_011542070.3:c.487-2179A>G | XP_011540372.1:n.487-2179A>G | |
| XM_011542071.2:c.118-2179A>G | XP_011540373.1:n.118-2179A>G | |
| XM_017002226.1:c.676-2179A>G | XP_016857715.1:n.676-2179A>G | |
| XM_024449502.1:c.877-2179A>G | XP_024305270.1:n.877-2179A>G | |
| XM_024449503.1:c.457-2179A>G | XP_024305271.1:n.457-2179A>G | |
| XM_024449504.1:c.457-2179A>G | XP_024305272.1:n.457-2179A>G | |
| XM_024449505.1:c.-231-2179A>G | XP_024305273.1:n.-231-2179A>G | |
| XR_002957535.1:n.1129-2179A>G | ||
| NM_001355224.2:c.-231-2179A>G | NP_001342153.1:n.-231-2179A>G | |
| NM_001355226.2:c.-231-2179A>G | NP_001342155.1:n.-231-2179A>G | |
| NM_001355227.2:c.-231-2179A>G | NP_001342156.1:n.-231-2179A>G | |
| NM_001080850.4:c.676-2179A>G | NP_001074319.1:n.676-2179A>G | |
| NM_001395379.1:c.583-2179A>G | NP_001382308.1:n.583-2179A>G | |
| NM_001395382.1:c.457-2179A>G | NP_001382311.1:n.457-2179A>G | |
| NM_001395383.1:c.457-2179A>G | NP_001382312.1:n.457-2179A>G | |
| NM_001395384.1:c.457-2179A>G | NP_001382313.1:n.457-2179A>G | |
| NM_001395385.1:c.457-2179A>G | NP_001382314.1:n.457-2179A>G | |
| NM_001395517.1:c.1141-2179A>G MANE Select | NP_001382446.1:n.1141-2179A>G |