gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.77607591 (EAS)
Genomes Max Group AF
0.77607591 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.108878275C>T , CM000674.2:g.108878275C>T | GRCh38 |
| NC_000012.11:g.109272051C>T , CM000674.1:g.109272051C>T | GRCh37 |
| NC_000012.10:g.107796180C>T | NCBI36 |
| NG_023236.1:g.3195C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000548052.5:n.349-1288C>T | ||
| ENST00000551281.5:c.-9-6723C>T | ENSP00000446853.1:n.-9-6723C>T |