gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44966213 (AFR)
Genomes Max Group AF
0.44966213 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45220183C>T , CM000680.2:g.45220183C>T | GRCh38 |
| NC_000018.9:g.42800148C>T , CM000680.1:g.42800148C>T | GRCh37 |
| NC_000018.8:g.41054146C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586448.5:c.-125+6992C>T | ENSP00000465953.1:n.-125+6992C>T | |
| NM_001242692.1:c.-125+6992C>T | NP_001229621.1:n.-125+6992C>T | |
| XM_011526216.1:c.-251+6992C>T | XP_011524518.1:n.-251+6992C>T | |
| XM_017026016.2:c.-125+6992C>T | XP_016881505.1:n.-125+6992C>T | |
| XM_024451270.1:c.-125+6992C>T | XP_024307038.1:n.-125+6992C>T | |
| XM_024451271.1:c.-125+6992C>T | XP_024307039.1:n.-125+6992C>T | |
| NM_001242692.2:c.-125+6992C>T | NP_001229621.1:n.-125+6992C>T | |
| NM_001371319.1:c.-125+6992C>T | NP_001358248.1:n.-125+6992C>T |