Linked Data
ClinVar Variation Id:
161480
ClinVar RCV Id:
RCV000149014
dbSNP Id:
rs193920832
COSMIC:
COSM1179678
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17359547C>A , CM000672.2:g.17359547C>A | GRCh38 |
| NC_000010.10:g.17401546C>A , CM000672.1:g.17401546C>A | GRCh37 |
| NC_000010.9:g.17441552C>A | NCBI36 |
| NG_051597.1:g.101420G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377602.5:c.344G>T MANE Select | ENSP00000366827.4:p.Trp115Leu | |
| ENST00000648997.1:c.354G>T | ||
| ENST00000377602.4:c.344G>T | ENSP00000366827.4:p.Trp115Leu | |
| NM_001004470.1:c.344G>T | NP_001004470.1:p.Trp115Leu | |
| XR_242697.2:n.470G>T | ||
| NM_001004470.2:c.344G>T | NP_001004470.1:p.Trp115Leu | |
| NM_001345961.1:c.-110G>T | NP_001332890.1:n.-110G>T | |
| NR_144322.1:n.476G>T | ||
| XM_017016174.1:c.254G>T | XP_016871663.1:p.Trp85Leu | |
| XM_024447974.1:c.-110G>T | XP_024303742.1:n.-110G>T | |
| XM_024447975.1:c.-110G>T | XP_024303743.1:n.-110G>T | |
| XM_024447976.1:c.-110G>T | XP_024303744.1:n.-110G>T | |
| XM_024447977.1:c.-110G>T | XP_024303745.1:n.-110G>T | |
| XM_024447978.1:c.-110G>T | XP_024303746.1:n.-110G>T | |
| NM_001004470.3:c.344G>T MANE Select | NP_001004470.1:p.Trp115Leu | |
| NM_001345961.2:c.-110G>T | NP_001332890.1:n.-110G>T | |
| NR_144322.2:n.684G>T |