Linked Data
ClinVar Variation Id:
524964
ClinVar RCV Id:
RCV000628892
dbSNP Id:
rs397516360
gnomAD v4:
19-55157093-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55157093C>A , CM000681.2:g.55157093C>A | GRCh38 |
| NC_000019.9:g.55668461C>A , CM000681.1:g.55668461C>A | GRCh37 |
| NC_000019.8:g.60360273C>A | NCBI36 |
| NG_007866.2:g.5640G>T , LRG_432:g.5640G>T | |
| NG_032759.1:g.14630G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344887.10:c.65G>T MANE Select | ENSP00000341838.5:p.Arg22Leu | |
| ENST00000665070.1:c.65G>T | ENSP00000499482.1:p.Arg22Leu | |
| ENST00000344887.9:c.65G>T | ENSP00000341838.5:p.Arg22Leu | |
| ENST00000586446.1:n.207G>T | ||
| ENST00000586669.5:n.73G>T | ||
| ENST00000587176.5:n.249G>T | ||
| ENST00000587871.1:c.684G>T | ||
| ENST00000590463.1:n.237G>T | ||
| NM_000363.4:c.65G>T , LRG_432t1:c.65G>T | NP_000354.4:p.Arg22Leu | |
| NM_000363.5:c.65G>T MANE Select | NP_000354.4:p.Arg22Leu |