gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81530439 (EAS)
Genomes Max Group AF
0.81530439 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75159339A>C , CM000676.2:g.75159339A>C | GRCh38 |
| NC_000014.8:g.75626042A>C , CM000676.1:g.75626042A>C | GRCh37 |
| NC_000014.7:g.74695795A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303575.9:c.226-7196T>G MANE Select | ENSP00000303145.4:n.226-7196T>G | |
| ENST00000303575.8:c.226-7196T>G | ENSP00000303145.4:n.226-7196T>G | |
| ENST00000555085.1:n.259-7196T>G | ||
| ENST00000555873.1:c.226-7196T>G | ENSP00000450726.1:n.226-7196T>G | |
| NM_006827.5:c.226-7196T>G | NP_006818.3:n.226-7196T>G | |
| NM_006827.6:c.226-7196T>G MANE Select | NP_006818.3:n.226-7196T>G |