gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41739984 (EAS)
Genomes Max Group AF
0.41739984 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.157031869C>A , CM000663.2:g.157031869C>A | GRCh38 |
| NC_000001.10:g.157001661C>A , CM000663.1:g.157001661C>A | GRCh37 |
| NC_000001.9:g.155268285C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368194.8:c.32+12430G>T MANE Select | ENSP00000357177.3:n.32+12430G>T | |
| ENST00000361409.2:c.32+12430G>T | ENSP00000354644.2:n.32+12430G>T | |
| ENST00000368194.7:c.32+12430G>T | ENSP00000357177.3:n.32+12430G>T | |
| NM_014784.3:c.32+12430G>T | NP_055599.1:n.32+12430G>T | |
| NM_198236.2:c.32+12430G>T | NP_937879.1:n.32+12430G>T | |
| XM_005245629.3:c.32+12430G>T | XP_005245686.1:n.32+12430G>T | |
| XM_006711659.1:c.32+12430G>T | XP_006711722.1:n.32+12430G>T | |
| XM_006711660.2:c.32+12430G>T | XP_006711723.1:n.32+12430G>T | |
| XM_006711661.1:c.32+12430G>T | XP_006711724.1:n.32+12430G>T | |
| XM_006711662.1:c.32+12430G>T | XP_006711725.1:n.32+12430G>T | |
| XM_006711663.2:c.20+14527G>T | XP_006711726.1:n.20+14527G>T | |
| XM_006711664.2:c.32+12430G>T | XP_006711727.1:n.32+12430G>T | |
| XM_006711665.2:c.32+12430G>T | XP_006711728.1:n.32+12430G>T | |
| XM_011510185.1:c.32+12430G>T | XP_011508487.1:n.32+12430G>T | |
| XM_011510186.1:c.32+12430G>T | XP_011508488.1:n.32+12430G>T | |
| XM_011510187.1:c.-203+11038G>T | XP_011508489.1:n.-203+11038G>T | |
| XM_011510188.1:c.32+12430G>T | XP_011508490.1:n.32+12430G>T | |
| XM_005245629.5:c.32+12430G>T | XP_005245686.1:n.32+12430G>T | |
| XM_006711659.3:c.32+12430G>T | XP_006711722.1:n.32+12430G>T | |
| XM_006711660.4:c.32+12430G>T | XP_006711723.1:n.32+12430G>T | |
| XM_006711661.3:c.32+12430G>T | XP_006711724.1:n.32+12430G>T | |
| XM_006711662.3:c.32+12430G>T | XP_006711725.1:n.32+12430G>T | |
| XM_006711663.3:c.20+14527G>T | XP_006711726.1:n.20+14527G>T | |
| XM_006711665.4:c.32+12430G>T | XP_006711728.1:n.32+12430G>T | |
| XM_011510185.3:c.32+12430G>T | XP_011508487.1:n.32+12430G>T | |
| XM_011510186.3:c.32+12430G>T | XP_011508488.1:n.32+12430G>T | |
| XM_011510187.3:c.-203+11038G>T | XP_011508489.1:n.-203+11038G>T | |
| XM_017002920.2:c.32+12430G>T | XP_016858409.1:n.32+12430G>T | |
| XM_017002921.2:c.32+12430G>T | XP_016858410.1:n.32+12430G>T | |
| XM_017002922.2:c.32+12430G>T | XP_016858411.1:n.32+12430G>T | |
| XM_017002923.2:c.32+12430G>T | XP_016858412.1:n.32+12430G>T | |
| XM_017002924.2:c.32+12430G>T | XP_016858413.1:n.32+12430G>T | |
| NM_001377418.1:c.20+14527G>T | NP_001364347.1:n.20+14527G>T | |
| NM_001377419.1:c.32+12430G>T | NP_001364348.1:n.32+12430G>T | |
| NM_014784.4:c.32+12430G>T | NP_055599.1:n.32+12430G>T | |
| NM_198236.3:c.32+12430G>T MANE Select | NP_937879.1:n.32+12430G>T |