gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00049264 (NFE)
Genomes Max Group AF
0.00015876 (NFE)
Exomes Max Group AF
0.00050833 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94424330A>G , CM000669.2:g.94424330A>G | GRCh38 |
| NC_000007.13:g.94053642A>G , CM000669.1:g.94053642A>G | GRCh37 |
| NC_000007.12:g.93891578A>G | NCBI36 |
| NG_007405.1:g.34770A>G , LRG_2:g.34770A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2566-6A>G MANE Select | ENSP00000297268.6:n.2566-6A>G | |
| ENST00000297268.10:c.2566-6A>G | ENSP00000297268.6:n.2566-6A>G | |
| ENST00000469732.1:n.343A>G | ||
| ENST00000481570.5:n.1860A>G | ||
| ENST00000620463.1:c.2560-6A>G | ENSP00000477719.1:n.2560-6A>G | |
| NM_000089.3:c.2566-6A>G , LRG_2t1:c.2566-6A>G | NP_000080.2:n.2566-6A>G | |
| NM_000089.4:c.2566-6A>G MANE Select | NP_000080.2:n.2566-6A>G |