Linked Data
ClinVar Variation Id:
1113617
ClinVar RCV Id:
RCV001441041
dbSNP Id:
rs121918073
MyVariant Identifiers:
chr18:g.29178585C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31598622C>T , CM000680.2:g.31598622C>T | GRCh38 |
| NC_000018.9:g.29178585C>T , CM000680.1:g.29178585C>T | GRCh37 |
| NC_000018.8:g.27432583C>T | NCBI36 |
| NG_009490.1:g.11856C>T , LRG_416:g.11856C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000237014.8:c.391C>T MANE Select | ENSP00000237014.4:p.Leu131= | |
| ENST00000610404.5:c.295C>T | ENSP00000477599.2:p.Leu99= | |
| ENST00000649620.1:c.391C>T | ENSP00000497927.1:p.Leu131= | |
| ENST00000237014.7:c.391C>T | ENSP00000237014.3:p.Leu131= | |
| ENST00000610404.4:c.505C>T | ENSP00000477599.1:p.Leu169= | |
| ENST00000613781.1:c.376-9C>T | ENSP00000479174.1:n.376-9C>T | |
| NM_000371.3:c.391C>T , LRG_416t1:c.391C>T | NP_000362.1:p.Leu131= | |
| NM_000371.4:c.391C>T MANE Select | NP_000362.1:p.Leu131= |