Linked Data
ClinVar Variation Id:
21691
ClinVar RCV Id:
RCV000790207
dbSNP Id:
rs80338927
PubMed:
PMID:20301514
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149027750A>G , CM000667.2:g.149027750A>G | GRCh38 |
| NC_000005.9:g.148407313A>G , CM000667.1:g.148407313A>G | GRCh37 |
| NC_000005.8:g.148387506A>G | NCBI36 |
| NG_007947.2:g.40425T>C , LRG_269:g.40425T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502274.2:c.1878T>C | ||
| ENST00000515425.6:c.1982T>C MANE Select | ENSP00000423660.1:p.Leu661Pro | |
| ENST00000675793.1:c.*1266T>C | ENSP00000502039.1:n.*1266T>C | |
| ENST00000676056.1:c.*1492T>C | ENSP00000501827.1:n.*1492T>C | |
| ENST00000323829.9:c.*1370T>C | ENSP00000313025.5:n.*1370T>C | |
| ENST00000504517.5:c.1512T>C | ENSP00000421779.1:n.1512T>C | |
| ENST00000504690.5:c.1982T>C | ENSP00000425627.1:p.Leu661Pro | |
| ENST00000510779.1:c.1032T>C | ||
| ENST00000511307.5:c.*1762T>C | ENSP00000421420.1:n.*1762T>C | |
| ENST00000512049.5:c.1961T>C | ENSP00000421860.1:p.Leu654Pro | |
| ENST00000513604.5:c.*1370T>C | ENSP00000423111.1:n.*1370T>C | |
| ENST00000515425.5:c.1982T>C | ENSP00000423660.1:p.Leu661Pro | |
| NM_024577.3:c.1982T>C , LRG_269t1:c.1982T>C | NP_078853.2:p.Leu661Pro | |
| NM_024577.4:c.1982T>C MANE Select | NP_078853.2:p.Leu661Pro |