gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.5871803 (EAS)
Genomes Max Group AF
0.56295469 (EAS)
Exomes Max Group AF
0.58873019 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.37538240G>T , CM000679.2:g.37538240G>T | GRCh38 |
| NC_000017.10:g.35898342G>T , CM000679.1:g.35898342G>T | GRCh37 |
| NC_000017.9:g.32972455G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612223.5:c.3517+84C>A MANE Select | ENSP00000483453.1:n.3517+84C>A | |
| ENST00000612223.4:c.3517+84C>A | ENSP00000483453.1:n.3517+84C>A | |
| ENST00000614196.1:c.667+84C>A | ENSP00000482858.1:n.667+84C>A | |
| ENST00000614941.4:c.2899+84C>A | ENSP00000481151.1:n.2899+84C>A | |
| ENST00000616179.4:c.3148+84C>A | ENSP00000482962.1:n.3148+84C>A | |
| ENST00000619541.4:c.3280+84C>A | ENSP00000477885.1:n.3280+84C>A | |
| ENST00000621136.4:c.3283+84C>A | ENSP00000484529.1:n.3283+84C>A | |
| ENST00000622045.4:c.3283+84C>A | ENSP00000483063.1:n.3283+84C>A | |
| NM_001163544.2:c.3283+84C>A | NP_001157016.1:n.3283+84C>A | |
| NM_001163545.2:c.3280+84C>A | NP_001157017.1:n.3280+84C>A | |
| NM_001163546.2:c.3148+84C>A | NP_001157018.1:n.3148+84C>A | |
| NM_001163547.2:c.2899+84C>A | NP_001157019.1:n.2899+84C>A | |
| NM_007247.5:c.3517+84C>A | NP_009178.3:n.3517+84C>A | |
| NM_080550.4:c.3283+84C>A | NP_542117.3:n.3283+84C>A | |
| NM_198882.2:c.3283+84C>A | NP_942583.1:n.3283+84C>A | |
| XM_005256980.3:c.3820+84C>A | XP_005257037.1:n.3820+84C>A | |
| XM_005256981.3:c.3817+84C>A | XP_005257038.1:n.3817+84C>A | |
| XM_006721652.2:c.3736+84C>A | XP_006721715.1:n.3736+84C>A | |
| XM_011524236.1:c.3844+84C>A | XP_011522538.1:n.3844+84C>A | |
| XM_011524237.1:c.3844+84C>A | XP_011522539.1:n.3844+84C>A | |
| XM_011524238.1:c.3781+84C>A | XP_011522540.1:n.3781+84C>A | |
| XM_011524239.1:c.3739+84C>A | XP_011522541.1:n.3739+84C>A | |
| XM_011524240.1:c.3844+84C>A | XP_011522542.1:n.3844+84C>A | |
| XM_011524241.1:c.3709+84C>A | XP_011522543.1:n.3709+84C>A | |
| XM_011524242.1:c.3706+84C>A | XP_011522544.1:n.3706+84C>A | |
| XM_011524243.1:c.3541+84C>A | XP_011522545.1:n.3541+84C>A | |
| XM_011524244.1:c.3844+84C>A | XP_011522546.1:n.3844+84C>A | |
| XM_011524245.1:c.3307+84C>A | XP_011522547.1:n.3307+84C>A | |
| XM_011524246.1:c.3304+84C>A | XP_011522548.1:n.3304+84C>A | |
| XM_011524247.1:c.3307+84C>A | XP_011522549.1:n.3307+84C>A | |
| XM_011524248.1:c.3172+84C>A | XP_011522550.1:n.3172+84C>A | |
| XM_011524250.1:c.3307+84C>A | XP_011522552.1:n.3307+84C>A | |
| XM_011524251.1:c.3304+84C>A | XP_011522553.1:n.3304+84C>A | |
| XM_011524252.1:c.3172+84C>A | XP_011522554.1:n.3172+84C>A | |
| XM_005256980.5:c.3820+84C>A | XP_005257037.1:n.3820+84C>A | |
| XM_017024076.1:c.3820+84C>A | XP_016879565.1:n.3820+84C>A | |
| XM_017024077.1:c.3817+84C>A | XP_016879566.1:n.3817+84C>A | |
| XM_017024078.1:c.3820+84C>A | XP_016879567.1:n.3820+84C>A | |
| XM_017024079.1:c.3757+84C>A | XP_016879568.1:n.3757+84C>A | |
| XM_017024081.2:c.3736+84C>A | XP_016879570.1:n.3736+84C>A | |
| XM_017024082.1:c.3820+84C>A | XP_016879571.1:n.3820+84C>A | |
| XM_017024083.1:c.3685+84C>A | XP_016879572.1:n.3685+84C>A | |
| XM_017024084.1:c.3682+84C>A | XP_016879573.1:n.3682+84C>A | |
| XM_017024085.1:c.3757+84C>A | XP_016879574.1:n.3757+84C>A | |
| XM_017024086.1:c.3685+84C>A | XP_016879575.1:n.3685+84C>A | |
| XM_017024087.1:c.3682+84C>A | XP_016879576.1:n.3682+84C>A | |
| XM_017024088.1:c.3586+84C>A | XP_016879577.1:n.3586+84C>A | |
| XM_017024089.1:c.3685+84C>A | XP_016879578.1:n.3685+84C>A | |
| XM_017024090.1:c.3517+84C>A | XP_016879579.1:n.3517+84C>A | |
| XM_017024091.1:c.3514+84C>A | XP_016879580.1:n.3514+84C>A | |
| XM_017024092.1:c.3619+84C>A | XP_016879581.1:n.3619+84C>A | |
| XM_017024093.2:c.3517+84C>A | XP_016879582.1:n.3517+84C>A | |
| XM_017024094.1:c.3514+84C>A | XP_016879583.1:n.3514+84C>A | |
| XM_017024095.1:c.3454+84C>A | XP_016879584.1:n.3454+84C>A | |
| XM_017024096.1:c.3820+84C>A | XP_016879585.1:n.3820+84C>A | |
| XM_017024097.1:c.3382+84C>A | XP_016879586.1:n.3382+84C>A | |
| XM_017024098.2:c.3379+84C>A | XP_016879587.1:n.3379+84C>A | |
| XM_017024099.1:c.3280+84C>A | XP_016879588.1:n.3280+84C>A | |
| XM_017024100.1:c.3379+84C>A | XP_016879589.1:n.3379+84C>A | |
| XM_017024101.1:c.3376+84C>A | XP_016879590.1:n.3376+84C>A | |
| XM_017024102.1:c.3280+84C>A | XP_016879591.1:n.3280+84C>A | |
| XM_017024103.2:c.3145+84C>A | XP_016879592.1:n.3145+84C>A | |
| XM_017024104.2:c.3145+84C>A | XP_016879593.1:n.3145+84C>A | |
| XM_017024106.1:c.3148+84C>A | XP_016879595.1:n.3148+84C>A | |
| NM_007247.6:c.3517+84C>A MANE Select | NP_009178.3:n.3517+84C>A | |
| NM_001163544.3:c.3283+84C>A | NP_001157016.1:n.3283+84C>A | |
| NM_001163545.3:c.3280+84C>A | NP_001157017.1:n.3280+84C>A | |
| NM_001163546.3:c.3148+84C>A | NP_001157018.1:n.3148+84C>A | |
| NM_001163547.3:c.2899+84C>A | NP_001157019.1:n.2899+84C>A | |
| NM_080550.5:c.3283+84C>A | NP_542117.3:n.3283+84C>A | |
| NM_198882.3:c.3283+84C>A | NP_942583.1:n.3283+84C>A |