gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0490316 (AFR)
Genomes Max Group AF
0.0490316 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.89057649C>A , CM000666.2:g.89057649C>A | GRCh38 |
| NC_000004.11:g.89978800C>A , CM000666.1:g.89978800C>A | GRCh37 |
| NC_000004.10:g.90197823C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502459.5:n.358-28000G>T | ||
| XM_005262682.2:c.-33-28000G>T | XP_005262739.1:n.-33-28000G>T | |
| XM_011531518.1:c.-659-28000G>T | XP_011529820.1:n.-659-28000G>T | |
| XM_017007627.1:c.-422-28000G>T | XP_016863116.1:n.-422-28000G>T |