gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19926331 (NFE)
Genomes Max Group AF
0.19926331 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38080367T>C , CM000664.2:g.38080367T>C | GRCh38 |
| NC_000002.11:g.38307509T>C , CM000664.1:g.38307509T>C | GRCh37 |
| NC_000002.10:g.38161013T>C | NCBI36 |
| NG_008386.2:g.735A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494864.1:c.-70-9057A>G | ENSP00000479876.1:n.-70-9057A>G | |
| XM_011533236.1:c.1174+3807T>C | XP_011531538.1:n.1174+3807T>C |