gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22691784 (AFR)
Genomes Max Group AF
0.22691784 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56558326C>T , CM000667.2:g.56558326C>T | GRCh38 |
| NC_000005.9:g.55854153C>T , CM000667.1:g.55854153C>T | GRCh37 |
| NC_000005.8:g.55889910C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438651.5:c.-15-2139G>A | ENSP00000406718.1:n.-15-2139G>A | |
| NM_001287053.1:c.-15-2139G>A | NP_001273982.1:n.-15-2139G>A | |
| XM_017008942.1:c.-15-2139G>A | XP_016864431.1:n.-15-2139G>A | |
| NR_161255.1:n.236-2139G>A |