gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61694168 (EAS)
Genomes Max Group AF
0.61694168 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.78624496T>G , CM000678.2:g.78624496T>G | GRCh38 |
| NC_000016.9:g.78658393T>G , CM000678.1:g.78658393T>G | GRCh37 |
| NC_000016.8:g.77215894T>G | NCBI36 |
| NG_011698.1:g.529843T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683929.1:c.1057-132444T>G | ENSP00000507689.1:n.1057-132444T>G | |
| ENST00000684632.1:n.1436-11351T>G | ||
| ENST00000566780.6:c.1056+191744T>G MANE Select | ENSP00000457230.1:n.1056+191744T>G | |
| ENST00000402655.6:c.409+509342T>G | ENSP00000384238.2:n.409+509342T>G | |
| ENST00000406884.6:c.516+460207T>G | ENSP00000384495.2:n.516+460207T>G | |
| ENST00000408984.7:c.1057-66746T>G | ENSP00000386161.3:n.1057-66746T>G | |
| ENST00000539474.6:c.410-132444T>G | ENSP00000445210.2:n.410-132444T>G | |
| ENST00000566780.5:c.1056+191744T>G | ENSP00000457230.1:n.1056+191744T>G | |
| ENST00000569332.5:c.*853+191744T>G | ENSP00000454788.1:n.*853+191744T>G | |
| NM_001291997.1:c.717+191744T>G | NP_001278926.1:n.717+191744T>G | |
| NM_016373.3:c.1056+191744T>G | NP_057457.1:n.1056+191744T>G | |
| XM_011523100.1:c.1152+88654T>G | XP_011521402.1:n.1152+88654T>G | |
| XM_011523103.1:c.1057-132444T>G | XP_011521405.1:n.1057-132444T>G | |
| XM_011523103.3:c.1057-132444T>G | XP_011521405.1:n.1057-132444T>G | |
| XM_017023279.1:c.142+88654T>G | XP_016878768.1:n.142+88654T>G | |
| NM_016373.4:c.1056+191744T>G MANE Select | NP_057457.1:n.1056+191744T>G | |
| NM_001291997.2:c.717+191744T>G | NP_001278926.1:n.717+191744T>G |