Linked Data
ClinVar Variation Id:
1014781
ClinVar RCV Id:
RCV001313564
dbSNP Id:
rs754635255
ExAC:
18:29175128 G / C
gnomAD v2:
18-29175128-G-C
gnomAD v3:
18-31595165-G-C
gnomAD v4:
18-31595165-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31595165G>C , CM000680.2:g.31595165G>C | GRCh38 |
| NC_000018.9:g.29175128G>C , CM000680.1:g.29175128G>C | GRCh37 |
| NC_000018.8:g.27429126G>C | NCBI36 |
| NG_009490.1:g.8399G>C , LRG_416:g.8399G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237014.8:c.246G>C MANE Select | ENSP00000237014.4:p.Glu82Asp | |
| ENST00000610404.5:c.150G>C | ENSP00000477599.2:p.Glu50Asp | |
| ENST00000649620.1:c.246G>C | ENSP00000497927.1:p.Glu82Asp | |
| ENST00000237014.7:c.246G>C | ENSP00000237014.3:p.Glu82Asp | |
| ENST00000541025.2:n.272G>C | ||
| ENST00000610404.4:c.246G>C | ENSP00000477599.1:p.Glu82Asp | |
| ENST00000613781.1:c.246G>C | ENSP00000479174.1:p.Glu82Asp | |
| NM_000371.3:c.246G>C , LRG_416t1:c.246G>C | NP_000362.1:p.Glu82Asp | |
| NM_000371.4:c.246G>C MANE Select | NP_000362.1:p.Glu82Asp |