gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27241245 (EAS)
Genomes Max Group AF
0.27241245 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.23775451A>G , CM000671.2:g.23775451A>G | GRCh38 |
| NC_000009.11:g.23775449A>G , CM000671.1:g.23775449A>G | GRCh37 |
| NC_000009.10:g.23765449A>G | NCBI36 |
| NG_016425.1:g.55615T>C | |
| NG_016425.2:g.80190T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397312.7:c.-15-13202T>C MANE Select | ENSP00000380479.2:n.-15-13202T>C | |
| ENST00000223951.10:c.-15-13202T>C | ENSP00000223951.5:n.-15-13202T>C | |
| ENST00000380110.8:c.-19-10352T>C | ENSP00000369453.4:n.-19-10352T>C | |
| ENST00000380117.5:c.-12-13205T>C | ENSP00000369460.1:n.-12-13205T>C | |
| ENST00000397312.6:c.-15-13202T>C | ENSP00000380479.2:n.-15-13202T>C | |
| ENST00000440102.1:c.-16+3786T>C | ENSP00000412602.1:n.-16+3786T>C | |
| ENST00000462649.1:n.370-10352T>C | ||
| ENST00000544538.5:c.-15-13202T>C | ENSP00000440998.1:n.-15-13202T>C | |
| NM_001171195.1:c.-15-13202T>C | NP_001164666.1:n.-15-13202T>C | |
| NM_001171197.1:c.-15-13202T>C | NP_001164668.1:n.-15-13202T>C | |
| NM_004432.3:c.-15-13202T>C | NP_004423.2:n.-15-13202T>C | |
| XM_005251393.2:c.-16+3786T>C | XP_005251450.1:n.-16+3786T>C | |
| XM_005251394.2:c.-15-13202T>C | XP_005251451.1:n.-15-13202T>C | |
| XM_005251395.2:c.-15-13202T>C | XP_005251452.1:n.-15-13202T>C | |
| XM_006716734.2:c.-19-10352T>C | XP_006716797.1:n.-19-10352T>C | |
| XM_006716735.2:c.-19-10352T>C | XP_006716798.1:n.-19-10352T>C | |
| XM_006716736.2:c.-12-13205T>C | XP_006716799.1:n.-12-13205T>C | |
| XM_011517778.1:c.-15-13202T>C | XP_011516080.1:n.-15-13202T>C | |
| XM_011517779.1:c.-19-10352T>C | XP_011516081.1:n.-19-10352T>C | |
| XM_011517780.1:c.-20+3786T>C | XP_011516082.1:n.-20+3786T>C | |
| XM_011517781.1:c.-19-10352T>C | XP_011516083.1:n.-19-10352T>C | |
| XM_011517782.1:c.-16+8020T>C | XP_011516084.1:n.-16+8020T>C | |
| XM_011517783.1:c.28-13202T>C | XP_011516085.1:n.28-13202T>C | |
| XM_011517784.1:c.-15-13202T>C | XP_011516086.1:n.-15-13202T>C | |
| XM_011517785.1:c.-15-13202T>C | XP_011516087.1:n.-15-13202T>C | |
| XM_011517786.1:c.-13+3786T>C | XP_011516088.1:n.-13+3786T>C | |
| NM_001351455.1:c.-19-10352T>C | NP_001338384.1:n.-19-10352T>C | |
| NM_001351456.1:c.-19-10352T>C | NP_001338385.1:n.-19-10352T>C | |
| NM_001351457.1:c.-19-10352T>C | NP_001338386.1:n.-19-10352T>C | |
| NM_001351458.1:c.-19-10352T>C | NP_001338387.1:n.-19-10352T>C | |
| NM_001351459.1:c.-19-10352T>C | NP_001338388.1:n.-19-10352T>C | |
| NM_001351460.1:c.-19-10352T>C | NP_001338389.1:n.-19-10352T>C | |
| NM_001351461.1:c.-19-10352T>C | NP_001338390.1:n.-19-10352T>C | |
| NM_001351462.1:c.-19-10352T>C | NP_001338391.1:n.-19-10352T>C | |
| NM_001351463.1:c.-19-10352T>C | NP_001338392.1:n.-19-10352T>C | |
| NM_001351464.1:c.-19-10352T>C | NP_001338393.1:n.-19-10352T>C | |
| NM_001351465.1:c.-19-10352T>C | NP_001338394.1:n.-19-10352T>C | |
| NM_001351466.1:c.28-13202T>C | NP_001338395.1:n.28-13202T>C | |
| NM_001351467.1:c.-15-13202T>C | NP_001338396.1:n.-15-13202T>C | |
| NM_001351468.1:c.-12-13205T>C | NP_001338397.1:n.-12-13205T>C | |
| NM_001351469.1:c.-15-13202T>C | NP_001338398.1:n.-15-13202T>C | |
| NM_001351470.1:c.-15-13202T>C | NP_001338399.1:n.-15-13202T>C | |
| NM_001351471.1:c.-15-13202T>C | NP_001338400.1:n.-15-13202T>C | |
| NM_001351472.1:c.-12-13205T>C | NP_001338401.1:n.-12-13205T>C | |
| NM_001351473.1:c.-15-13202T>C | NP_001338402.1:n.-15-13202T>C | |
| NM_001351474.1:c.-15-13202T>C | NP_001338403.1:n.-15-13202T>C | |
| NM_001351475.1:c.-15-13202T>C | NP_001338404.1:n.-15-13202T>C | |
| NM_001351476.1:c.-15-13202T>C | NP_001338405.1:n.-15-13202T>C | |
| NM_001351477.1:c.-15-13202T>C | NP_001338406.1:n.-15-13202T>C | |
| NM_001351478.1:c.-15-13202T>C | NP_001338407.1:n.-15-13202T>C | |
| NM_004432.4:c.-15-13202T>C | NP_004423.2:n.-15-13202T>C | |
| XM_005251393.3:c.-16+3786T>C | XP_005251450.1:n.-16+3786T>C | |
| XM_006716735.4:c.-19-10352T>C | XP_006716798.1:n.-19-10352T>C | |
| XM_011517778.2:c.82-13202T>C | XP_011516080.2:n.82-13202T>C | |
| XM_011517779.3:c.-19-10352T>C | XP_011516081.1:n.-19-10352T>C | |
| XM_011517780.3:c.-20+3786T>C | XP_011516082.1:n.-20+3786T>C | |
| XM_011517783.3:c.28-13202T>C | XP_011516085.1:n.28-13202T>C | |
| XM_011517785.2:c.-15-13202T>C | XP_011516087.1:n.-15-13202T>C | |
| XM_011517786.2:c.-13+3786T>C | XP_011516088.1:n.-13+3786T>C | |
| XM_017014415.1:c.36+8020T>C | XP_016869904.1:n.36+8020T>C | |
| XR_002956763.1:n.181-13202T>C | ||
| NM_004432.5:c.-15-13202T>C MANE Select | NP_004423.2:n.-15-13202T>C | |
| NM_001171195.2:c.-15-13202T>C | NP_001164666.1:n.-15-13202T>C | |
| NM_001171197.2:c.-15-13202T>C | NP_001164668.1:n.-15-13202T>C | |
| NM_001351455.2:c.-19-10352T>C | NP_001338384.1:n.-19-10352T>C | |
| NM_001351456.2:c.-19-10352T>C | NP_001338385.1:n.-19-10352T>C | |
| NM_001351457.2:c.-19-10352T>C | NP_001338386.1:n.-19-10352T>C | |
| NM_001351459.2:c.-19-10352T>C | NP_001338388.1:n.-19-10352T>C | |
| NM_001351460.2:c.-19-10352T>C | NP_001338389.1:n.-19-10352T>C | |
| NM_001351461.2:c.-19-10352T>C | NP_001338390.1:n.-19-10352T>C | |
| NM_001351462.2:c.-19-10352T>C | NP_001338391.1:n.-19-10352T>C | |
| NM_001351463.2:c.-19-10352T>C | NP_001338392.1:n.-19-10352T>C | |
| NM_001351464.2:c.-19-10352T>C | NP_001338393.1:n.-19-10352T>C | |
| NM_001351465.2:c.-19-10352T>C | NP_001338394.1:n.-19-10352T>C | |
| NM_001351466.2:c.28-13202T>C | NP_001338395.1:n.28-13202T>C | |
| NM_001351467.2:c.-15-13202T>C | NP_001338396.1:n.-15-13202T>C | |
| NM_001351468.2:c.-12-13205T>C | NP_001338397.1:n.-12-13205T>C | |
| NM_001351470.2:c.-15-13202T>C | NP_001338399.1:n.-15-13202T>C | |
| NM_001351471.2:c.-15-13202T>C | NP_001338400.1:n.-15-13202T>C | |
| NM_001351472.2:c.-12-13205T>C | NP_001338401.1:n.-12-13205T>C | |
| NM_001351476.2:c.-15-13202T>C | NP_001338405.1:n.-15-13202T>C | |
| NM_001351477.2:c.-15-13202T>C | NP_001338406.1:n.-15-13202T>C | |
| NM_001351458.2:c.-19-10352T>C | NP_001338387.1:n.-19-10352T>C | |
| NM_001351469.2:c.-15-13202T>C | NP_001338398.1:n.-15-13202T>C | |
| NM_001351473.2:c.-15-13202T>C | NP_001338402.1:n.-15-13202T>C | |
| NM_001351474.2:c.-15-13202T>C | NP_001338403.1:n.-15-13202T>C | |
| NM_001351475.2:c.-15-13202T>C | NP_001338404.1:n.-15-13202T>C | |
| NM_001351478.2:c.-15-13202T>C | NP_001338407.1:n.-15-13202T>C | |
| NM_001385693.1:c.-12-13205T>C | NP_001372622.1:n.-12-13205T>C | |
| NM_001385694.1:c.28-13202T>C | NP_001372623.1:n.28-13202T>C | |
| NM_001385695.1:c.-19-10352T>C | NP_001372624.1:n.-19-10352T>C | |
| NM_001385696.1:c.28-13202T>C | NP_001372625.1:n.28-13202T>C | |
| NM_001385697.1:c.-19-10352T>C | NP_001372626.1:n.-19-10352T>C | |
| NM_001385698.1:c.-19-10352T>C | NP_001372627.1:n.-19-10352T>C | |
| NM_001385699.1:c.-19-10352T>C | NP_001372628.1:n.-19-10352T>C | |
| NM_001385700.1:c.-19-10352T>C | NP_001372629.1:n.-19-10352T>C | |
| NM_001385701.1:c.-19-10352T>C | NP_001372630.1:n.-19-10352T>C | |
| NM_001385702.1:c.-12-13205T>C | NP_001372631.1:n.-12-13205T>C | |
| NM_001385703.1:c.-12-13205T>C | NP_001372632.1:n.-12-13205T>C | |
| NM_001385704.1:c.-19-10352T>C | NP_001372633.1:n.-19-10352T>C | |
| NM_001385705.1:c.-15-13202T>C | NP_001372634.1:n.-15-13202T>C | |
| NM_001385707.1:c.-19-10352T>C | NP_001372636.1:n.-19-10352T>C |