Linked Data
ClinVar Variation Id:
11385
ClinVar RCV Id:
RCV000012138
dbSNP Id:
rs128621206
COSMIC:
COSM3555934
PubMed:
PMID:7849721
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101353336T>C , CM000685.2:g.101353336T>C | GRCh38 |
| NC_000023.10:g.100608324T>C , CM000685.1:g.100608324T>C | GRCh37 |
| NC_000023.9:g.100494980T>C | NCBI36 |
| NG_009616.1:g.37889A>G , LRG_128:g.37889A>G | |
| NG_011734.1:g.634A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478995.2:n.3283A>G | ||
| ENST00000488970.2:n.3922A>G | ||
| ENST00000695614.1:c.1766A>G | ENSP00000512053.1:p.Glu589Gly | |
| ENST00000695615.1:c.1766A>G | ENSP00000512054.1:p.Glu589Gly | |
| ENST00000695616.1:c.*1611A>G | ENSP00000512055.1:n.*1611A>G | |
| ENST00000695617.1:c.1763A>G | ENSP00000512056.1:p.Glu588Gly | |
| ENST00000695618.1:c.*1515A>G | ENSP00000512058.1:n.*1515A>G | |
| ENST00000695619.1:c.*1476A>G | ENSP00000512059.1:n.*1476A>G | |
| ENST00000695620.1:c.*1692A>G | ENSP00000512060.1:n.*1692A>G | |
| ENST00000695621.1:c.*191A>G | ENSP00000512061.1:n.*191A>G | |
| ENST00000695622.1:c.1703A>G | ENSP00000512062.1:p.Glu568Gly | |
| ENST00000695623.1:c.1760A>G | ENSP00000512063.1:p.Glu587Gly | |
| ENST00000695624.1:n.1071A>G | ||
| ENST00000695625.1:c.1766A>G | ENSP00000512064.1:p.Glu589Gly | |
| ENST00000695626.1:c.521A>G | ENSP00000512065.1:n.521A>G | |
| ENST00000695627.1:c.714A>G | ENSP00000512066.1:n.714A>G | |
| ENST00000695628.1:c.325A>G | ENSP00000512067.1:n.325A>G | |
| ENST00000695629.1:c.206A>G | ENSP00000512068.1:p.Glu69Gly | |
| ENST00000695630.1:c.493A>G | ||
| ENST00000695631.1:c.115-88A>G | ||
| ENST00000703407.1:c.1238A>G | ENSP00000512057.1:p.Glu413Gly | |
| ENST00000308731.8:c.1766A>G MANE Select | ENSP00000308176.8:p.Glu589Gly | |
| ENST00000308731.7:c.1766A>G | ENSP00000308176.7:p.Glu589Gly | |
| ENST00000372880.5:c.1238A>G | ENSP00000361971.1:p.Glu413Gly | |
| ENST00000470069.1:n.131A>G | ||
| ENST00000488970.1:n.368A>G | ||
| ENST00000618050.4:c.1765A>G | ENSP00000479125.1:n.1765A>G | |
| ENST00000621635.4:c.1868A>G | ENSP00000483570.1:p.Glu623Gly | |
| NM_000061.2:c.1766A>G , LRG_128t1:c.1766A>G | NP_000052.1:p.Glu589Gly | |
| NM_001287344.1:c.1868A>G | NP_001274273.1:p.Glu623Gly | |
| NM_001287345.1:c.1238A>G | NP_001274274.1:p.Glu413Gly | |
| NM_000061.3:c.1766A>G MANE Select | NP_000052.1:p.Glu589Gly | |
| NM_001287344.2:c.1868A>G | NP_001274273.1:p.Glu623Gly | |
| NM_001287345.2:c.1238A>G | NP_001274274.1:p.Glu413Gly |