Linked Data
ClinVar Variation Id:
1712
ClinVar RCV Id:
RCV000001782
dbSNP Id:
rs121917905
PubMed:
PMID:18628313
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49471085A>G , CM000672.2:g.49471085A>G | GRCh38 |
| NC_000010.10:g.50679131A>G , CM000672.1:g.50679131A>G | GRCh37 |
| NC_000010.9:g.50349137A>G | NCBI36 |
| NG_009442.1:g.73017T>C , LRG_465:g.73017T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.2960T>C MANE Select | ENSP00000348089.5:p.Leu987Pro | |
| ENST00000679552.1:n.142-196T>C | ||
| ENST00000679871.1:n.106T>C | ||
| ENST00000679974.1:n.120-196T>C | ||
| ENST00000681632.1:n.4363T>C | ||
| ENST00000681659.1:c.2801T>C | ENSP00000505631.1:p.Leu934Pro | |
| ENST00000355832.9:c.2960T>C | ENSP00000348089.5:p.Leu987Pro | |
| ENST00000623073.3:c.*1256T>C | ENSP00000485650.1:n.*1256T>C | |
| ENST00000623115.3:c.1070T>C | ENSP00000485321.1:p.Leu357Pro | |
| ENST00000624341.3:c.792T>C | ||
| NM_000124.3:c.2960T>C | NP_000115.1:p.Leu987Pro | |
| XR_945953.1:n.243-480A>G | ||
| NM_001346440.1:c.2960T>C | NP_001333369.1:p.Leu987Pro | |
| NM_000124.4:c.2960T>C MANE Select | NP_000115.1:p.Leu987Pro | |
| NM_001346440.2:c.2960T>C | NP_001333369.1:p.Leu987Pro |