gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005938 (SAS)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00005395 (SAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48412593G>A , CM000677.2:g.48412593G>A | GRCh38 |
| NC_000015.9:g.48704790G>A , CM000677.1:g.48704790G>A | GRCh37 |
| NC_000015.8:g.46492082G>A | NCBI36 |
| NG_008805.2:g.238196C>T , LRG_778:g.238196C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1010C>T | ENSP00000453958.2:n.*1010C>T | |
| ENST00000674301.2:c.*1715C>T | ENSP00000501333.2:n.*1715C>T | |
| ENST00000682158.1:n.1583C>T | ||
| ENST00000682170.1:n.2383C>T | ||
| ENST00000682767.1:n.1499C>T | ||
| ENST00000316623.10:c.8202C>T MANE Select | ENSP00000325527.5:p.Asn2734= | |
| ENST00000674301.1:c.3368C>T | ENSP00000501333.1:n.3368C>T | |
| ENST00000316623.9:c.8202C>T | ENSP00000325527.5:p.Asn2734= | |
| ENST00000559133.5:c.3571C>T | ||
| ENST00000561429.1:n.457C>T | ||
| NM_000138.4:c.8202C>T , LRG_778t1:c.8202C>T | NP_000129.3:p.Asn2734= | |
| NM_000138.5:c.8202C>T MANE Select | NP_000129.3:p.Asn2734= |