Linked Data
ClinVar Variation Id:
161560
ClinVar RCV Id:
RCV000149095
dbSNP Id:
rs193920962
COSMIC:
COSM1178740
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.794482C>A , CM000673.2:g.794482C>A | GRCh38 |
| NC_000011.9:g.794482C>A , CM000673.1:g.794482C>A | GRCh37 |
| NC_000011.8:g.784482C>A | NCBI36 |
| NG_023407.1:g.8788G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000628067.3:c.178G>T MANE Select | ENSP00000486058.1:p.Glu60Ter | |
| ENST00000320230.9:c.178G>T | ENSP00000322020.5:p.Glu60Ter | |
| ENST00000456706.6:c.178G>T | ENSP00000392749.3:p.Glu60Ter | |
| ENST00000481290.5:c.253G>T | ENSP00000431829.2:p.Glu85Ter | |
| ENST00000524891.5:n.394G>T | ||
| ENST00000525010.5:n.421G>T | ||
| ENST00000525644.3:n.416G>T | ||
| ENST00000526152.5:c.178G>T | ENSP00000436745.1:p.Glu60Ter | |
| ENST00000527127.5:n.365G>T | ||
| ENST00000527723.5:c.178G>T | ENSP00000434479.2:p.Glu60Ter | |
| ENST00000527734.5:c.178G>T | ENSP00000433655.1:p.Glu60Ter | |
| ENST00000528606.5:c.178G>T | ENSP00000437045.2:p.Glu60Ter | |
| ENST00000528936.5:c.178G>T | ENSP00000432817.2:p.Glu60Ter | |
| ENST00000529066.5:c.178G>T | ENSP00000433028.1:p.Glu60Ter | |
| ENST00000529351.5:c.178G>T | ENSP00000432222.1:p.Glu60Ter | |
| ENST00000530360.2:c.178G>T | ENSP00000434850.2:p.Glu60Ter | |
| ENST00000531214.5:c.178G>T | ENSP00000437236.1:p.Glu60Ter | |
| ENST00000531437.5:c.178G>T | ENSP00000435862.1:p.Glu60Ter | |
| ENST00000531514.5:c.178G>T | ENSP00000433780.2:p.Glu60Ter | |
| ENST00000531534.5:c.178G>T | ENSP00000435402.2:p.Glu60Ter | |
| ENST00000532361.5:n.393G>T | ||
| ENST00000532459.5:n.499G>T | ||
| ENST00000532484.5:c.178G>T | ENSP00000431466.2:p.Glu60Ter | |
| ENST00000533385.5:c.178G>T | ENSP00000434287.2:p.Glu60Ter | |
| ENST00000625316.2:n.536G>T | ||
| ENST00000625419.2:c.178G>T | ENSP00000485719.1:p.Glu60Ter | |
| ENST00000625752.2:c.178G>T | ENSP00000487237.1:p.Glu60Ter | |
| ENST00000627843.2:c.178G>T | ENSP00000486512.1:p.Glu60Ter | |
| ENST00000628067.2:c.178G>T | ENSP00000486058.1:p.Glu60Ter | |
| ENST00000629602.1:n.509G>T | ||
| ENST00000629634.2:c.178G>T | ENSP00000486434.1:p.Glu60Ter | |
| NM_001191060.1:c.178G>T | NP_001177989.1:p.Glu60Ter | |
| NM_001191061.1:c.178G>T | NP_001177990.1:p.Glu60Ter | |
| NM_024698.5:c.178G>T | NP_078974.1:p.Glu60Ter | |
| XM_011520369.1:c.178G>T | XP_011518671.1:p.Glu60Ter | |
| XM_011520370.1:c.178G>T | XP_011518672.1:p.Glu60Ter | |
| XM_011520371.1:c.178G>T | XP_011518673.1:p.Glu60Ter | |
| XM_011520370.2:c.178G>T | XP_011518672.1:p.Glu60Ter | |
| XM_011520371.2:c.178G>T | XP_011518673.1:p.Glu60Ter | |
| XM_024448687.1:c.178G>T | XP_024304455.1:p.Glu60Ter | |
| XM_024448688.1:c.178G>T | XP_024304456.1:p.Glu60Ter | |
| XM_024448689.1:c.178G>T | XP_024304457.1:p.Glu60Ter | |
| NM_001191061.2:c.178G>T MANE Select | NP_001177990.1:p.Glu60Ter | |
| NM_024698.6:c.178G>T | NP_078974.1:p.Glu60Ter | |
| NM_001191060.2:c.178G>T | NP_001177989.1:p.Glu60Ter |