gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21405907 (SAS)
Genomes Max Group AF
0.21863511 (SAS)
Exomes Max Group AF
0.21251935 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2378754G>A , CM000663.2:g.2378754G>A | GRCh38 |
| NC_000001.10:g.2310193G>A , CM000663.1:g.2310193G>A | GRCh37 |
| NC_000001.9:g.2300053G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378531.8:c.538-4197C>T MANE Select | ENSP00000367792.3:n.538-4197C>T | |
| ENST00000378525.2:c.*340C>T | ENSP00000367786.2:n.*340C>T | |
| ENST00000378529.7:c.538-4197C>T | ENSP00000367790.3:n.538-4197C>T | |
| ENST00000378531.7:c.538-4197C>T | ENSP00000367792.3:n.538-4197C>T | |
| ENST00000419785.1:n.145-4197C>T | ||
| ENST00000449373.2:c.863C>T | ENSP00000390261.1:n.863C>T | |
| ENST00000469374.5:n.384-4197C>T | ||
| ENST00000606372.5:n.620-4197C>T | ||
| NM_001301060.1:c.538-4197C>T | NP_001287989.1:n.538-4197C>T | |
| NM_024848.2:c.538-4197C>T | NP_079124.1:n.538-4197C>T | |
| NR_125361.1:n.1029C>T | ||
| XM_005244798.2:c.466-4197C>T | XP_005244855.1:n.466-4197C>T | |
| XM_011542169.1:c.538-4197C>T | XP_011540471.1:n.538-4197C>T | |
| XM_011542170.1:c.538-4197C>T | XP_011540472.1:n.538-4197C>T | |
| XM_011542171.1:c.487-4197C>T | XP_011540473.1:n.487-4197C>T | |
| XM_011542172.1:c.466-4197C>T | XP_011540474.1:n.466-4197C>T | |
| XM_011542173.1:c.538-4197C>T | XP_011540475.1:n.538-4197C>T | |
| XM_011542174.1:c.538-4197C>T | XP_011540476.1:n.538-4197C>T | |
| XM_011542175.1:c.538-4197C>T | XP_011540477.1:n.538-4197C>T | |
| XM_011542176.1:c.538-4197C>T | XP_011540478.1:n.538-4197C>T | |
| XM_011542177.1:c.538-4197C>T | XP_011540479.1:n.538-4197C>T | |
| XR_946762.1:n.756-4197C>T | ||
| XM_005244798.3:c.466-4197C>T | XP_005244855.1:n.466-4197C>T | |
| XM_011542169.2:c.538-4197C>T | XP_011540471.1:n.538-4197C>T | |
| XM_011542170.2:c.538-4197C>T | XP_011540472.1:n.538-4197C>T | |
| XM_011542172.2:c.466-4197C>T | XP_011540474.1:n.466-4197C>T | |
| XM_011542173.2:c.538-4197C>T | XP_011540475.1:n.538-4197C>T | |
| XM_011542174.2:c.538-4197C>T | XP_011540476.1:n.538-4197C>T | |
| XM_011542176.2:c.538-4197C>T | XP_011540478.1:n.538-4197C>T | |
| XM_017002365.1:c.538-4197C>T | XP_016857854.1:n.538-4197C>T | |
| XM_024449843.1:c.538-4197C>T | XP_024305611.1:n.538-4197C>T | |
| NM_024848.3:c.538-4197C>T MANE Select | NP_079124.1:n.538-4197C>T | |
| NM_001301060.2:c.538-4197C>T | NP_001287989.1:n.538-4197C>T | |
| NR_125361.2:n.832C>T |