ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00335266 (EAS)
Genomes Max Group AF
0.00335266 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48408595C>T , CM000677.2:g.48408595C>T | GRCh38 |
| NC_000015.9:g.48700792C>T , CM000677.1:g.48700792C>T | GRCh37 |
| NC_000015.8:g.46488084C>T | NCBI36 |
| NG_008805.2:g.242194G>A , LRG_778:g.242194G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682170.1:n.5192G>A | ||
| ENST00000682767.1:n.4308G>A | ||
| ENST00000316623.10:c.*2395G>A MANE Select | ENSP00000325527.5:n.*2395G>A | |
| ENST00000316623.9:c.*2395G>A | ENSP00000325527.5:n.*2395G>A | |
| NM_000138.4:c.*2395G>A , LRG_778t1:c.*2395G>A | NP_000129.3:n.*2395G>A | |
| NM_000138.5:c.*2395G>A MANE Select | NP_000129.3:n.*2395G>A |