Linked Data
ClinVar Variation Id:
8013
ClinVar RCV Id:
RCV000008477
dbSNP Id:
rs121909183
PubMed:
PMID:15044640
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2278348A>G , CM000678.2:g.2278348A>G | GRCh38 |
| NC_000016.9:g.2328349A>G , CM000678.1:g.2328349A>G | GRCh37 |
| NC_000016.8:g.2268350A>G | NCBI36 |
| NG_011790.1:g.67399T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301732.10:c.4658T>C MANE Select | ENSP00000301732.5:p.Leu1553Pro | |
| ENST00000301732.9:c.4658T>C | ENSP00000301732.5:p.Leu1553Pro | |
| ENST00000382381.7:c.4484T>C | ENSP00000371818.3:p.Leu1495Pro | |
| ENST00000566200.1:n.1179T>C | ||
| NM_001089.2:c.4658T>C | NP_001080.2:p.Leu1553Pro | |
| NM_001089.3:c.4658T>C MANE Select | NP_001080.2:p.Leu1553Pro |