gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.98798789 (NFE)
Genomes Max Group AF
0.98798789 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.355870A>G , CM000665.2:g.355870A>G | GRCh38 |
| NC_000003.11:g.397553A>G , CM000665.1:g.397553A>G | GRCh37 |
| NC_000003.10:g.372553A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256509.7:c.1165+1099A>G MANE Select | ENSP00000256509.2:n.1165+1099A>G | |
| ENST00000256509.6:c.1165+1099A>G | ENSP00000256509.2:n.1165+1099A>G | |
| ENST00000397491.6:c.1117+1099A>G | ENSP00000380628.2:n.1117+1099A>G | |
| ENST00000453040.5:c.*1455+1099A>G | ENSP00000413109.1:n.*1455+1099A>G | |
| ENST00000620033.4:c.1165+1099A>G | ENSP00000483512.1:n.1165+1099A>G | |
| NM_001253387.1:c.1117+1099A>G | NP_001240316.1:n.1117+1099A>G | |
| NM_001253388.1:c.1165+1099A>G | NP_001240317.1:n.1165+1099A>G | |
| NM_006614.3:c.1165+1099A>G | NP_006605.2:n.1165+1099A>G | |
| XM_006712938.1:c.1165+1099A>G | XP_006713001.1:n.1165+1099A>G | |
| XM_006712939.2:c.1165+1099A>G | XP_006713002.1:n.1165+1099A>G | |
| XM_006712940.2:c.1165+1099A>G | XP_006713003.1:n.1165+1099A>G | |
| XM_011533292.1:c.1165+1099A>G | XP_011531594.1:n.1165+1099A>G | |
| XM_011533293.1:c.1165+1099A>G | XP_011531595.1:n.1165+1099A>G | |
| XM_011533294.1:c.1117+1099A>G | XP_011531596.1:n.1117+1099A>G | |
| XM_011533295.1:c.1117+1099A>G | XP_011531597.1:n.1117+1099A>G | |
| XM_011533296.1:c.1165+1099A>G | XP_011531598.1:n.1165+1099A>G | |
| XM_011533297.1:c.1165+1099A>G | XP_011531599.1:n.1165+1099A>G | |
| XM_006712939.3:c.1165+1099A>G | XP_006713002.1:n.1165+1099A>G | |
| XM_006712940.3:c.1165+1099A>G | XP_006713003.1:n.1165+1099A>G | |
| XM_017005566.1:c.1165+1099A>G | XP_016861055.1:n.1165+1099A>G | |
| XM_017005567.1:c.1165+1099A>G | XP_016861056.1:n.1165+1099A>G | |
| XM_017005568.1:c.1165+1099A>G | XP_016861057.1:n.1165+1099A>G | |
| XM_017005569.1:c.1117+1099A>G | XP_016861058.1:n.1117+1099A>G | |
| XM_017005570.1:c.1117+1099A>G | XP_016861059.1:n.1117+1099A>G | |
| XM_017005571.1:c.1117+1099A>G | XP_016861060.1:n.1117+1099A>G | |
| XM_017005572.1:c.1165+1099A>G | XP_016861061.1:n.1165+1099A>G | |
| XM_017005573.1:c.1165+1099A>G | XP_016861062.1:n.1165+1099A>G | |
| NM_006614.4:c.1165+1099A>G MANE Select | NP_006605.2:n.1165+1099A>G | |
| NM_001253387.2:c.1117+1099A>G | NP_001240316.1:n.1117+1099A>G |