Linked Data
ClinVar Variation Id:
92252
ClinVar RCV Id:
RCV000077875
dbSNP Id:
rs398123066
PubMed:
PMID:23531866
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301180A>G , CM000666.2:g.6301180A>G | GRCh38 |
| NC_000004.11:g.6302907A>G , CM000666.1:g.6302907A>G | GRCh37 |
| NC_000004.10:g.6353808A>G | NCBI36 |
| NG_011700.1:g.36331A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1421A>G | ENSP00000507852.1:p.Glu474Gly | |
| ENST00000683395.1:c.1362A>G | ||
| ENST00000684087.1:c.1385A>G | ENSP00000506978.1:p.Glu462Gly | |
| ENST00000506362.2:c.1136A>G | ENSP00000424103.2:p.Glu379Gly | |
| ENST00000673642.1:c.1044A>G | ENSP00000501242.1:p.Arg348= | |
| ENST00000673991.1:c.1421A>G | ENSP00000501033.1:p.Glu474Gly | |
| ENST00000226760.5:c.1385A>G MANE Select | ENSP00000226760.1:p.Glu462Gly | |
| ENST00000503569.5:c.1385A>G | ENSP00000423337.1:p.Glu462Gly | |
| ENST00000507765.1:n.1570A>G | ||
| NM_001145853.1:c.1385A>G | NP_001139325.1:p.Glu462Gly | |
| NM_006005.3:c.1385A>G MANE Select | NP_005996.2:p.Glu462Gly | |
| XM_017008586.1:c.1394A>G | XP_016864075.1:p.Glu465Gly |