gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003755 (NFE)
Genomes Max Group AF
0.00003762 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230714272C>A , CM000663.2:g.230714272C>A | GRCh38 |
| NC_000001.10:g.230850018C>A , CM000663.1:g.230850018C>A | GRCh37 |
| NC_000001.9:g.228916641C>A | NCBI36 |
| NG_008836.1:g.5319G>T | |
| NG_008836.2:g.5319G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679684.1:c.-217G>T | ENSP00000505981.1:n.-217G>T | |
| ENST00000679738.1:c.-217G>T | ENSP00000505063.1:n.-217G>T | |
| ENST00000679802.1:c.-217G>T | ENSP00000505184.1:n.-217G>T | |
| ENST00000679854.1:n.295G>T | ||
| ENST00000679957.1:c.-217G>T | ENSP00000506646.1:n.-217G>T | |
| ENST00000680783.1:c.-217G>T | ENSP00000506329.1:n.-217G>T | |
| ENST00000681269.1:c.-30-3419G>T | ENSP00000505985.1:n.-30-3419G>T | |
| ENST00000681347.1:n.295G>T | ||
| ENST00000681772.1:c.-217G>T | ENSP00000505829.1:n.-217G>T | |
| ENST00000366667.4:c.-190G>T | ENSP00000355627.4:n.-190G>T | |
| NM_000029.3:c.-190G>T | NP_000020.1:n.-190G>T | |
| NM_001382817.3:c.-30-3419G>T | NP_001369746.2:n.-30-3419G>T |