gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66482174 (EAS)
Genomes Max Group AF
0.66482174 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.108575012A>G , CM000668.2:g.108575012A>G | GRCh38 |
| NC_000006.11:g.108896215A>G , CM000668.1:g.108896215A>G | GRCh37 |
| NC_000006.10:g.109002908A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406360.2:c.621+13183A>G MANE Select | ENSP00000385824.1:n.621+13183A>G | |
| ENST00000343882.10:c.621+13183A>G | ENSP00000339527.6:n.621+13183A>G | |
| ENST00000406360.1:c.621+13183A>G | ENSP00000385824.1:n.621+13183A>G | |
| NM_001455.3:c.621+13183A>G | NP_001446.1:n.621+13183A>G | |
| NM_201559.2:c.621+13183A>G | NP_963853.1:n.621+13183A>G | |
| XM_005266867.3:c.-64+13183A>G | XP_005266924.1:n.-64+13183A>G | |
| XM_011535626.1:c.120+12869A>G | XP_011533928.1:n.120+12869A>G | |
| XM_005266867.4:c.-64+13183A>G | XP_005266924.1:n.-64+13183A>G | |
| XM_011535626.2:c.120+12869A>G | XP_011533928.1:n.120+12869A>G | |
| XM_017010585.1:c.-64+5270A>G | XP_016866074.1:n.-64+5270A>G | |
| XM_017010586.1:c.-40+5270A>G | XP_016866075.1:n.-40+5270A>G | |
| NM_001455.4:c.621+13183A>G MANE Select | NP_001446.1:n.621+13183A>G | |
| NM_201559.3:c.621+13183A>G | NP_963853.1:n.621+13183A>G |