gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000877 (SAS)
Genomes Max Group AF
0.00001175 (NFE)
Exomes Max Group AF
0.00000458 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193249726A>G , CM000663.2:g.193249726A>G | GRCh38 |
| NC_000001.10:g.193218856A>G , CM000663.1:g.193218856A>G | GRCh37 |
| NC_000001.9:g.191485479A>G | NCBI36 |
| NG_012691.1:g.132769A>G , LRG_507:g.132769A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.1418-4A>G MANE Select | ENSP00000356405.4:n.1418-4A>G | |
| ENST00000635846.1:c.1175-4A>G | ENSP00000490035.1:n.1175-4A>G | |
| ENST00000643006.1:c.*328-4A>G | ENSP00000496633.1:n.*328-4A>G | |
| ENST00000648071.1:c.*1394-4A>G | ENSP00000497513.1:n.*1394-4A>G | |
| ENST00000649613.1:n.668-4A>G | ||
| ENST00000650197.1:c.*116-4A>G | ENSP00000496929.1:n.*116-4A>G | |
| ENST00000367435.3:c.1418-4A>G | ENSP00000356405.3:n.1418-4A>G | |
| ENST00000477868.1:n.130-4A>G | ||
| NM_024529.4:c.1418-4A>G , LRG_507t1:c.1418-4A>G | NP_078805.3:n.1418-4A>G | |
| NM_024529.5:c.1418-4A>G MANE Select | NP_078805.3:n.1418-4A>G |