gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.73455777 (AFR)
Genomes Max Group AF
0.73455777 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186227233C>T , CM000666.2:g.186227233C>T | GRCh38 |
| NC_000004.11:g.187148387C>T , CM000666.1:g.187148387C>T | GRCh37 |
| NC_000004.10:g.187385381C>T | NCBI36 |
| NG_012095.2:g.23255C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000428196.5:c.-149-207C>T | ENSP00000412366.1:n.-149-207C>T | |
| ENST00000511608.5:c.202-4894C>T | ||
| XM_011531931.1:c.-1-962C>T | XP_011530233.1:n.-1-962C>T | |
| XM_011531932.1:c.-251-169C>T | XP_011530234.1:n.-251-169C>T | |
| XM_011531933.1:c.-65-1012C>T | XP_011530235.1:n.-65-1012C>T | |
| XM_017008181.1:c.-1-962C>T | XP_016863670.1:n.-1-962C>T |