Linked Data
ClinVar Variation Id:
13435
ClinVar RCV Id:
RCV000014377
dbSNP Id:
rs121918069
PubMed:
PMID:1656975
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31595152T>G , CM000680.2:g.31595152T>G | GRCh38 |
| NC_000018.9:g.29175115T>G , CM000680.1:g.29175115T>G | GRCh37 |
| NC_000018.8:g.27429113T>G | NCBI36 |
| NG_009490.1:g.8386T>G , LRG_416:g.8386T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000237014.8:c.233T>G MANE Select | ENSP00000237014.4:p.Leu78Arg | |
| ENST00000610404.5:c.137T>G | ENSP00000477599.2:p.Leu46Arg | |
| ENST00000649620.1:c.233T>G | ENSP00000497927.1:p.Leu78Arg | |
| ENST00000237014.7:c.233T>G | ENSP00000237014.3:p.Leu78Arg | |
| ENST00000541025.2:n.259T>G | ||
| ENST00000610404.4:c.233T>G | ENSP00000477599.1:p.Leu78Arg | |
| ENST00000613781.1:c.233T>G | ENSP00000479174.1:p.Leu78Arg | |
| NM_000371.3:c.233T>G , LRG_416t1:c.233T>G | NP_000362.1:p.Leu78Arg | |
| NM_000371.4:c.233T>G MANE Select | NP_000362.1:p.Leu78Arg |