Linked Data
ClinVar Variation Id:
132125
ClinVar RCV Id:
RCV000119012
dbSNP Id:
rs515726198
PubMed:
PMID:24741716
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102208240A>C , CM000670.2:g.102208240A>C | GRCh38 |
| NC_000008.10:g.103220468A>C , CM000670.1:g.103220468A>C | GRCh37 |
| NC_000008.9:g.103289644A>C | NCBI36 |
| NG_016617.1:g.35879T>G , LRG_788:g.35879T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251810.8:c.949T>G MANE Select | ENSP00000251810.3:p.Leu317Val | |
| ENST00000251810.7:c.949T>G | ENSP00000251810.3:p.Leu317Val | |
| ENST00000395910.6:n.336T>G | ||
| ENST00000395912.6:c.793T>G | ENSP00000379248.2:p.Leu265Val | |
| ENST00000519317.5:c.313T>G | ENSP00000430641.1:p.Leu105Val | |
| ENST00000519962.5:c.94T>G | ENSP00000429140.1:p.Leu32Val | |
| ENST00000522368.5:c.1118T>G | ||
| ENST00000522394.1:c.282T>G | ENSP00000429578.1:n.282T>G | |
| ENST00000621845.1:c.787T>G | ENSP00000484318.1:p.Leu263Val | |
| NM_001172477.1:c.1165T>G , LRG_788t1:c.1165T>G | NP_001165948.1:p.Leu389Val | |
| NM_001172478.1:c.793T>G | NP_001165949.1:p.Leu265Val | |
| NM_015713.4:c.949T>G , LRG_788t2:c.949T>G | NP_056528.2:p.Leu317Val | |
| NM_001172478.2:c.793T>G | NP_001165949.1:p.Leu265Val | |
| NM_015713.5:c.949T>G MANE Select | NP_056528.2:p.Leu317Val |