gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55889602 (NFE)
Genomes Max Group AF
0.55889602 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31585905T>A , CM000664.2:g.31585905T>A | GRCh38 |
| NC_000002.11:g.31810974T>A , CM000664.1:g.31810974T>A | GRCh37 |
| NC_000002.10:g.31664478T>A | NCBI36 |
| NG_008365.1:g.67A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011533070.1:c.27-52139A>T | XP_011531372.1:n.27-52139A>T | |
| XM_011533071.1:c.27-52139A>T | XP_011531373.1:n.27-52139A>T | |
| XM_011533072.1:c.27-52139A>T | XP_011531374.1:n.27-52139A>T | |
| XM_011533072.2:c.27-52139A>T | XP_011531374.1:n.27-52139A>T |