gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35283071 (AFR)
Genomes Max Group AF
0.35435852 (AFR)
Exomes Max Group AF
0.34051901 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119393591C>T , CM000667.2:g.119393591C>T | GRCh38 |
| NC_000005.9:g.118729286C>T , CM000667.1:g.118729286C>T | GRCh37 |
| NC_000005.8:g.118757185C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504771.3:c.*210C>T MANE Select | ENSP00000422245.1:n.*210C>T | |
| ENST00000415806.2:c.*806C>T | ENSP00000408534.2:n.*806C>T | |
| ENST00000503646.1:c.*210C>T | ENSP00000421848.1:n.*210C>T | |
| ENST00000504771.2:c.*210C>T | ENSP00000422245.1:n.*210C>T | |
| ENST00000513374.1:c.*210C>T | ENSP00000427424.1:n.*210C>T | |
| NM_001077654.2:c.*210C>T | NP_001071122.1:n.*210C>T | |
| NM_001286813.1:c.*210C>T | NP_001273742.1:n.*210C>T | |
| NM_001286814.1:c.*210C>T | NP_001273743.1:n.*210C>T | |
| NM_001286815.1:c.*210C>T | NP_001273744.1:n.*210C>T | |
| NM_001286817.1:c.*210C>T | NP_001273746.1:n.*210C>T | |
| NM_014350.3:c.*210C>T | NP_055165.2:n.*210C>T | |
| XM_017009327.1:c.*210C>T | XP_016864816.1:n.*210C>T | |
| XM_017009328.1:c.*210C>T | XP_016864817.1:n.*210C>T | |
| NM_014350.4:c.*210C>T MANE Select | NP_055165.2:n.*210C>T | |
| NM_001077654.3:c.*210C>T | NP_001071122.1:n.*210C>T | |
| NM_001286813.2:c.*210C>T | NP_001273742.1:n.*210C>T | |
| NM_001286815.2:c.*210C>T | NP_001273744.1:n.*210C>T | |
| NM_001286817.2:c.*210C>T | NP_001273746.1:n.*210C>T |