Linked Data
ClinVar Variation Id:
18247
ClinVar RCV Id:
RCV000019909
dbSNP Id:
rs104893876
PubMed:
PMID:11756613
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185144945T>C , CM000666.2:g.185144945T>C | GRCh38 |
| NC_000004.11:g.186066099T>C , CM000666.1:g.186066099T>C | GRCh37 |
| NC_000004.10:g.186303093T>C | NCBI36 |
| NG_013001.1:g.6683T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.293T>C MANE Select | ENSP00000281456.5:p.Leu98Pro | |
| ENST00000281456.10:c.293T>C | ENSP00000281456.5:p.Leu98Pro | |
| ENST00000491736.1:c.293T>C | ENSP00000476711.1:p.Leu98Pro | |
| NM_001151.3:c.293T>C | NP_001142.2:p.Leu98Pro | |
| NM_001151.4:c.293T>C MANE Select | NP_001142.2:p.Leu98Pro |