Linked Data
ClinVar Variation Id:
1951893
ClinVar RCV Id:
RCV002676570
dbSNP Id:
rs1256987800
gnomAD v2:
18-29178584-G-C
gnomAD v4:
18-31598621-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31598621G>C , CM000680.2:g.31598621G>C | GRCh38 |
| NC_000018.9:g.29178584G>C , CM000680.1:g.29178584G>C | GRCh37 |
| NC_000018.8:g.27432582G>C | NCBI36 |
| NG_009490.1:g.11855G>C , LRG_416:g.11855G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237014.8:c.390G>C MANE Select | ENSP00000237014.4:p.Leu130= | |
| ENST00000610404.5:c.294G>C | ENSP00000477599.2:p.Leu98= | |
| ENST00000649620.1:c.390G>C | ENSP00000497927.1:p.Leu130= | |
| ENST00000237014.7:c.390G>C | ENSP00000237014.3:p.Leu130= | |
| ENST00000610404.4:c.504G>C | ENSP00000477599.1:p.Leu168= | |
| ENST00000613781.1:c.376-10G>C | ENSP00000479174.1:n.376-10G>C | |
| NM_000371.3:c.390G>C , LRG_416t1:c.390G>C | NP_000362.1:p.Leu130= | |
| NM_000371.4:c.390G>C MANE Select | NP_000362.1:p.Leu130= |