Linked Data
ClinVar Variation Id:
4659
ClinVar RCV Id:
RCV000004922
dbSNP Id:
rs121908161
gnomAD v3:
1-10297206-A-T
gnomAD v4:
1-10297206-A-T
PubMed:
PMID:18334619
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10297206A>T , CM000663.2:g.10297206A>T | GRCh38 |
| NC_000001.10:g.10357264A>T , CM000663.1:g.10357264A>T | GRCh37 |
| NC_000001.9:g.10279851A>T | NCBI36 |
| NG_008069.1:g.91501A>T , LRG_252:g.91501A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696500.1:c.*1109A>T | ENSP00000512666.1:n.*1109A>T | |
| ENST00000696502.1:c.1937A>T | ENSP00000512668.1:p.Glu646Val | |
| ENST00000696503.1:c.2000A>T | ENSP00000512669.1:p.Glu667Val | |
| ENST00000696504.1:c.2000A>T | ENSP00000512670.1:p.Glu667Val | |
| ENST00000377093.9:c.1937A>T | ENSP00000366297.4:p.Glu646Val | |
| ENST00000676179.1:c.2075A>T MANE Select | ENSP00000502065.1:p.Glu692Val | |
| ENST00000263934.10:c.1937A>T | ENSP00000263934.6:p.Glu646Val | |
| ENST00000377081.5:c.2075A>T | ENSP00000366284.1:p.Glu692Val | |
| ENST00000377083.5:c.1937A>T | ENSP00000366287.1:p.Glu646Val | |
| ENST00000377086.5:c.2075A>T | ENSP00000366290.1:p.Glu692Val | |
| ENST00000377093.8:c.1937A>T | ENSP00000366297.4:p.Glu646Val | |
| ENST00000620295.2:c.2033A>T | ENSP00000478500.1:p.Glu678Val | |
| ENST00000622724.3:c.1997A>T | ENSP00000480063.1:p.Glu666Val | |
| NM_015074.3:c.1937A>T , LRG_252t1:c.1937A>T | NP_055889.2:p.Glu646Val | |
| NM_183416.3:c.1937A>T | NP_904325.2:p.Glu646Val | |
| NM_001365951.1:c.2075A>T | NP_001352880.1:p.Glu692Val | |
| NM_001365952.1:c.2075A>T | NP_001352881.1:p.Glu692Val | |
| NM_001365953.1:c.1937A>T | NP_001352882.1:p.Glu646Val | |
| NM_001365951.3:c.2075A>T MANE Select | NP_001352880.1:p.Glu692Val | |
| NM_183416.4:c.1937A>T | NP_904325.2:p.Glu646Val |