Linked Data
ClinVar Variation Id:
11363
dbSNP Id:
rs128621193
COSMIC:
COSM5699985
PubMed:
PMID:8162056
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101360581G>A , CM000685.2:g.101360581G>A | GRCh38 |
| NC_000023.10:g.100615569G>A , CM000685.1:g.100615569G>A | GRCh37 |
| NC_000023.9:g.100502225G>A | NCBI36 |
| NG_009616.1:g.30644C>T , LRG_128:g.30644C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000464006.2:n.543C>T | ||
| ENST00000478995.2:n.923C>T | ||
| ENST00000488970.2:n.921C>T | ||
| ENST00000695614.1:c.763C>T | ENSP00000512053.1:p.Arg255Ter | |
| ENST00000695615.1:c.763C>T | ENSP00000512054.1:p.Arg255Ter | |
| ENST00000695616.1:c.*608C>T | ENSP00000512055.1:n.*608C>T | |
| ENST00000695617.1:c.760C>T | ENSP00000512056.1:p.Arg254Ter | |
| ENST00000695618.1:c.*512C>T | ENSP00000512058.1:n.*512C>T | |
| ENST00000695619.1:c.*608C>T | ENSP00000512059.1:n.*608C>T | |
| ENST00000695620.1:c.*608C>T | ENSP00000512060.1:n.*608C>T | |
| ENST00000695621.1:c.763C>T | ENSP00000512061.1:p.Arg255Ter | |
| ENST00000695622.1:c.763C>T | ENSP00000512062.1:p.Arg255Ter | |
| ENST00000695623.1:c.763C>T | ENSP00000512063.1:p.Arg255Ter | |
| ENST00000695625.1:c.763C>T | ENSP00000512064.1:p.Arg255Ter | |
| ENST00000703407.1:c.763C>T | ENSP00000512057.1:p.Arg255Ter | |
| ENST00000308731.8:c.763C>T MANE Select | ENSP00000308176.8:p.Arg255Ter | |
| ENST00000308731.7:c.763C>T | ENSP00000308176.7:p.Arg255Ter | |
| ENST00000372880.5:c.763C>T | ENSP00000361971.1:p.Arg255Ter | |
| ENST00000618050.4:c.763C>T | ENSP00000479125.1:p.Arg255Ter | |
| ENST00000621635.4:c.865C>T | ENSP00000483570.1:p.Arg289Ter | |
| NM_000061.2:c.763C>T , LRG_128t1:c.763C>T | NP_000052.1:p.Arg255Ter | |
| NM_001287344.1:c.865C>T | NP_001274273.1:p.Arg289Ter | |
| NM_001287345.1:c.763C>T | NP_001274274.1:p.Arg255Ter | |
| NM_000061.3:c.763C>T MANE Select | NP_000052.1:p.Arg255Ter | |
| NM_001287344.2:c.865C>T | NP_001274273.1:p.Arg289Ter | |
| NM_001287345.2:c.763C>T | NP_001274274.1:p.Arg255Ter |