dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.26504886 (SAS)
Genomes Max Group AF
0.25205116 (SAS)
Exomes Max Group AF
0.26518062 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133257367C>A , CM000671.2:g.133257367C>A | GRCh38 |
| NC_000009.11:g.136132754C>A , CM000671.1:g.136132754C>A | GRCh37 |
| NC_000009.10:g.135122575C>A | NCBI36 |
| NG_006669.1:g.20301G>T | |
| NG_006669.2:g.22849G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.403+42G>T | ||
| ENST00000647353.1:n.54-6215G>T | ||
| ENST00000651471.1:n.329+675G>T | ||
| ENST00000679909.1:c.28+17795G>T | ENSP00000506089.1:n.28+17795G>T | |
| ENST00000453660.3:n.385+42G>T | ||
| ENST00000538324.2:c.371+42G>T | ENSP00000483018.1:n.371+42G>T | |
| ENST00000611156.4:c.371+42G>T | ENSP00000483265.1:n.371+42G>T | |
| NM_020469.2:c.374+42G>T | NP_065202.2:n.374+42G>T | |
| NM_020469.3:c.374+42G>T | NP_065202.2:n.374+42G>T |