Linked Data
ClinVar Variation Id:
13432
ClinVar RCV Id:
RCV000014374
dbSNP Id:
rs121918077
PubMed:
PMID:1358785
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31592992G>C , CM000680.2:g.31592992G>C | GRCh38 |
| NC_000018.9:g.29172955G>C , CM000680.1:g.29172955G>C | GRCh37 |
| NC_000018.8:g.27426953G>C | NCBI36 |
| NG_009490.1:g.6226G>C , LRG_416:g.6226G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000237014.8:c.166G>C MANE Select | ENSP00000237014.4:p.Ala56Pro | |
| ENST00000610404.5:c.70G>C | ENSP00000477599.2:p.Ala24Pro | |
| ENST00000649620.1:c.166G>C | ENSP00000497927.1:p.Ala56Pro | |
| ENST00000237014.7:c.166G>C | ENSP00000237014.3:p.Ala56Pro | |
| ENST00000432547.7:n.192G>C | ||
| ENST00000541025.2:n.192G>C | ||
| ENST00000610404.4:c.166G>C | ENSP00000477599.1:p.Ala56Pro | |
| ENST00000613781.1:c.166G>C | ENSP00000479174.1:p.Ala56Pro | |
| NM_000371.3:c.166G>C , LRG_416t1:c.166G>C | NP_000362.1:p.Ala56Pro | |
| NM_000371.4:c.166G>C MANE Select | NP_000362.1:p.Ala56Pro |