gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51483427 (EAS)
Genomes Max Group AF
0.51483427 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56125999G>T , CM000679.2:g.56125999G>T | GRCh38 |
| NC_000017.10:g.54203360G>T , CM000679.1:g.54203360G>T | GRCh37 |
| NC_000017.9:g.51558359G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000635860.2:c.288+79674G>T | ENSP00000489811.2:n.288+79674G>T | |
| ENST00000635860.1:c.288+79674G>T | ENSP00000489811.1:n.288+79674G>T | |
| ENST00000653862.1:c.462+79674G>T | ENSP00000499705.1:n.462+79674G>T | |
| ENST00000575594.1:n.89+14953G>T | ||
| XM_011524425.1:c.-78+14953G>T | XP_011522727.1:n.-78+14953G>T | |
| XM_011524430.1:c.-261+14953G>T | XP_011522732.1:n.-261+14953G>T | |
| XM_011524431.1:c.-193+14953G>T | XP_011522733.1:n.-193+14953G>T | |
| XM_011524432.1:c.288+79674G>T | XP_011522734.1:n.288+79674G>T | |
| XM_011524430.2:c.-261+14953G>T | XP_011522732.1:n.-261+14953G>T | |
| XM_011524431.2:c.-193+14953G>T | XP_011522733.1:n.-193+14953G>T | |
| XM_017024263.1:c.-78+14953G>T | XP_016879752.1:n.-78+14953G>T | |
| XM_017024270.2:c.-78+14953G>T | XP_016879759.1:n.-78+14953G>T |