Linked Data
ClinVar Variation Id:
43388
ClinVar RCV Id:
RCV000159227
RCV000465603
RCV000578464
RCV001170616
RCV001174966
RCV002336121
RCV003415768
dbSNP Id:
rs397516353
gnomAD v4:
19-55154109-G-A
COSMIC:
COSM6388939
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154109G>A , CM000681.2:g.55154109G>A | GRCh38 |
| NC_000019.9:g.55665477G>A , CM000681.1:g.55665477G>A | GRCh37 |
| NC_000019.8:g.60357289G>A | NCBI36 |
| NG_007866.2:g.8624C>T , LRG_432:g.8624C>T | |
| NG_011829.2:g.130C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344887.10:c.470C>T MANE Select | ENSP00000341838.5:p.Ala157Val | |
| ENST00000665070.1:c.503C>T | ENSP00000499482.1:p.Ala168Val | |
| ENST00000344887.9:c.470C>T | ENSP00000341838.5:p.Ala157Val | |
| ENST00000585806.5:n.469C>T | ||
| ENST00000588882.1:c.395C>T | ENSP00000466729.1:p.Ala132Val | |
| ENST00000589864.1:n.298C>T | ||
| NM_000363.4:c.470C>T , LRG_432t1:c.470C>T | NP_000354.4:p.Ala157Val | |
| NM_000363.5:c.470C>T MANE Select | NP_000354.4:p.Ala157Val |