gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63349656 (AFR)
Genomes Max Group AF
0.63349656 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31612299G>A , CM000664.2:g.31612299G>A | GRCh38 |
| NC_000002.11:g.31837368G>A , CM000664.1:g.31837368G>A | GRCh37 |
| NC_000002.10:g.31690872G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011533070.1:c.26+34019C>T | XP_011531372.1:n.26+34019C>T | |
| XM_011533071.1:c.26+34019C>T | XP_011531373.1:n.26+34019C>T | |
| XM_011533072.1:c.26+34019C>T | XP_011531374.1:n.26+34019C>T | |
| XM_011533072.2:c.26+34019C>T | XP_011531374.1:n.26+34019C>T |