gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00011785 (NFE)
Genomes Max Group AF
0.00011227 (NFE)
Exomes Max Group AF
0.00011321 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.106454496A>G , CM000674.2:g.106454496A>G | GRCh38 |
| NC_000012.11:g.106848274A>G , CM000674.1:g.106848274A>G | GRCh37 |
| NC_000012.10:g.105372404A>G | NCBI36 |
| NG_031837.1:g.101839A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228347.9:c.2084-6A>G MANE Select | ENSP00000228347.4:n.2084-6A>G | |
| ENST00000228347.8:c.2084-6A>G | ENSP00000228347.4:n.2084-6A>G | |
| ENST00000539066.5:c.1910-6A>G | ENSP00000445721.1:n.1910-6A>G | |
| NM_001160708.1:c.1910-6A>G | NP_001154180.1:n.1910-6A>G | |
| NM_018082.5:c.2084-6A>G | NP_060552.4:n.2084-6A>G | |
| XM_017019621.2:c.2084-6A>G | XP_016875110.1:n.2084-6A>G | |
| NM_018082.6:c.2084-6A>G MANE Select | NP_060552.4:n.2084-6A>G | |
| NM_001160708.2:c.1910-6A>G | NP_001154180.1:n.1910-6A>G |