gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29935683 (AFR)
Genomes Max Group AF
0.29935683 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.61141904C>A , CM000670.2:g.61141904C>A | GRCh38 |
| NC_000008.10:g.62054463C>A , CM000670.1:g.62054463C>A | GRCh37 |
| NC_000008.9:g.62217017C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000522621.1:c.-152+10044C>A | ENSP00000428986.1:n.-152+10044C>A | |
| XM_011517472.1:c.-152+10044C>A | XP_011515774.1:n.-152+10044C>A | |
| XM_017013141.2:c.-152+10044C>A | XP_016868630.1:n.-152+10044C>A | |
| XM_024447079.1:c.-289+10044C>A | XP_024302847.1:n.-289+10044C>A |