Linked Data
ClinVar Variation Id:
157594
ClinVar RCV Id:
RCV000144928
dbSNP Id:
rs387906709
PubMed:
PMID:24771548
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.56565363C>T , CM000685.2:g.56565363C>T | GRCh38 |
| NC_000023.10:g.56591796C>T , CM000685.1:g.56591796C>T | GRCh37 |
| NC_000023.9:g.56608521C>T | NCBI36 |
| NG_016249.1:g.6771C>T , LRG_665:g.6771C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338222.7:c.1490C>T MANE Select | ENSP00000345195.5:p.Pro497Leu | |
| ENST00000338222.6:c.1490C>T | ENSP00000345195.5:p.Pro497Leu | |
| NM_013444.3:c.1490C>T , LRG_665t1:c.1490C>T | NP_038472.2:p.Pro497Leu | |
| XM_011530837.1:c.273+1623C>T | XP_011529139.1:n.273+1623C>T | |
| NM_013444.4:c.1490C>T MANE Select | NP_038472.2:p.Pro497Leu |