gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.64467636 (AMR)
Genomes Max Group AF
0.64467636 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.239904221G>A , CM000664.2:g.239904221G>A | GRCh38 |
| NC_000002.11:g.240843638G>A , CM000664.1:g.240843638G>A | GRCh37 |
| NC_000002.10:g.240492311G>A | NCBI36 |
| NG_031855.2:g.126182C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000677057.1:n.4404+8028C>T | ||
| ENST00000679183.1:c.*220+8028C>T | ENSP00000503016.1:n.*220+8028C>T | |
| ENST00000419408.5:c.295-8907C>T | ENSP00000408055.1:n.295-8907C>T | |
| XM_011512296.1:c.128+8028C>T | XP_011510598.1:n.128+8028C>T | |
| XR_241441.2:n.573+8028C>T | ||
| NR_136158.1:n.4409+8028C>T | ||
| NR_136158.2:n.4349+8028C>T |