gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81314752 (EAS)
Genomes Max Group AF
0.81314752 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48730149C>A , CM000681.2:g.48730149C>A | GRCh38 |
| NC_000019.9:g.49233406C>A , CM000681.1:g.49233406C>A | GRCh37 |
| NC_000019.8:g.53925218C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222145.9:c.1180-559G>T MANE Select | ENSP00000222145.3:n.1180-559G>T | |
| ENST00000222145.8:c.1180-559G>T | ENSP00000222145.3:n.1180-559G>T | |
| ENST00000594232.1:n.577-559G>T | ||
| ENST00000599291.1:c.415+5047G>T | ||
| ENST00000621604.4:c.1180-559G>T | ENSP00000479419.1:n.1180-559G>T | |
| NM_017805.2:c.1180-559G>T | NP_060275.2:n.1180-559G>T | |
| XM_011527053.1:c.1180-559G>T | XP_011525355.1:n.1180-559G>T | |
| XM_011527054.1:c.1180-559G>T | XP_011525356.1:n.1180-559G>T | |
| XM_011527055.1:c.1180-559G>T | XP_011525357.1:n.1180-559G>T | |
| XR_935837.1:n.1477-559G>T | ||
| XM_011527053.2:c.1483-559G>T | XP_011525355.2:n.1483-559G>T | |
| XM_017026914.1:c.1483-559G>T | XP_016882403.1:n.1483-559G>T | |
| XM_017026915.1:c.1483-559G>T | XP_016882404.1:n.1483-559G>T | |
| XM_024451566.1:c.1483-559G>T | XP_024307334.1:n.1483-559G>T | |
| XM_024451567.1:c.1483-559G>T | XP_024307335.1:n.1483-559G>T | |
| XR_001753712.1:n.1497-559G>T | ||
| NM_017805.3:c.1180-559G>T MANE Select | NP_060275.2:n.1180-559G>T |