gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.64991505 (EAS)
Genomes Max Group AF
0.64421614 (EAS)
Exomes Max Group AF
0.64346022 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81478525C>T , CM000670.2:g.81478525C>T | GRCh38 |
| NC_000008.10:g.82390760C>T , CM000670.1:g.82390760C>T | GRCh37 |
| NC_000008.9:g.82553315C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256104.5:c.*340G>A MANE Select | ENSP00000256104.4:n.*340G>A | |
| ENST00000256104.4:c.*340G>A | ENSP00000256104.4:n.*340G>A | |
| NM_001442.2:c.*340G>A | NP_001433.1:n.*340G>A | |
| XR_001745980.1:n.514+16551C>T | ||
| NM_001442.3:c.*340G>A MANE Select | NP_001433.1:n.*340G>A |