gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81324983 (EAS)
Genomes Max Group AF
0.81324983 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33071848T>C , CM000668.2:g.33071848T>C | GRCh38 |
| NC_000006.11:g.33039625T>C , CM000668.1:g.33039625T>C | GRCh37 |
| NC_000006.10:g.33147603T>C | NCBI36 |
| NG_033241.1:g.13931A>G | |
| NG_033242.1:g.923T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692443.1:c.100+1623A>G MANE Select | ENSP00000509163.1:n.100+1623A>G | |
| ENST00000419277.5:c.100+1623A>G | ENSP00000393566.1:n.100+1623A>G | |
| ENST00000453337.1:c.100+1623A>G | ENSP00000390929.1:n.100+1623A>G | |
| ENST00000463066.1:n.195+1591A>G | ||
| ENST00000476642.5:n.77-1962A>G | ||
| ENST00000479107.1:n.145+1623A>G | ||
| NM_001242524.1:c.100+1623A>G | NP_001229453.1:n.100+1623A>G | |
| NM_001242525.1:c.100+1623A>G | NP_001229454.1:n.100+1623A>G | |
| NM_033554.3:c.100+1623A>G | NP_291032.2:n.100+1623A>G | |
| XM_011514559.1:c.100+1623A>G | XP_011512861.1:n.100+1623A>G | |
| NM_001242524.2:c.100+1623A>G | NP_001229453.1:n.100+1623A>G | |
| NM_001242525.2:c.100+1623A>G | NP_001229454.1:n.100+1623A>G |