gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15999715 (AFR)
Genomes Max Group AF
0.15999715 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116761784C>T , CM000673.2:g.116761784C>T | GRCh38 |
| NC_000011.9:g.116632500C>T , CM000673.1:g.116632500C>T | GRCh37 |
| NC_000011.8:g.116137710C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260210.5:c.1036+769G>A MANE Select | ENSP00000260210.3:n.1036+769G>A | |
| ENST00000260210.4:c.1036+769G>A | ENSP00000260210.3:n.1036+769G>A | |
| ENST00000375445.7:c.635-832G>A | ENSP00000364594.3:n.635-832G>A | |
| ENST00000419189.1:c.284+769G>A | ||
| NM_001159736.1:c.635-832G>A | NP_001153208.1:n.635-832G>A | |
| NM_032725.3:c.1036+769G>A | NP_116114.1:n.1036+769G>A | |
| XM_011543035.1:c.937+769G>A | XP_011541337.1:n.937+769G>A | |
| XM_011543035.2:c.937+769G>A | XP_011541337.1:n.937+769G>A | |
| NM_032725.4:c.1036+769G>A MANE Select | NP_116114.1:n.1036+769G>A | |
| NM_001159736.2:c.635-832G>A | NP_001153208.1:n.635-832G>A |