Linked Data
ClinVar Variation Id:
1124908
ClinVar RCV Id:
RCV001456478
dbSNP Id:
rs11541787
ExAC:
18:29175197 C / A
gnomAD v2:
18-29175197-C-A
gnomAD v3:
18-31595234-C-A
gnomAD v4:
18-31595234-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31595234C>A , CM000680.2:g.31595234C>A | GRCh38 |
| NC_000018.9:g.29175197C>A , CM000680.1:g.29175197C>A | GRCh37 |
| NC_000018.8:g.27429195C>A | NCBI36 |
| NG_009490.1:g.8468C>A , LRG_416:g.8468C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237014.8:c.315C>A MANE Select | ENSP00000237014.4:p.Ser105= | |
| ENST00000610404.5:c.219C>A | ENSP00000477599.2:p.Ser73= | |
| ENST00000649620.1:c.315C>A | ENSP00000497927.1:p.Ser105= | |
| ENST00000237014.7:c.315C>A | ENSP00000237014.3:p.Ser105= | |
| ENST00000541025.2:n.341C>A | ||
| ENST00000610404.4:c.315C>A | ENSP00000477599.1:p.Ser105= | |
| ENST00000613781.1:c.315C>A | ENSP00000479174.1:p.Ser105= | |
| NM_000371.3:c.315C>A , LRG_416t1:c.315C>A | NP_000362.1:p.Ser105= | |
| NM_000371.4:c.315C>A MANE Select | NP_000362.1:p.Ser105= |