Linked Data
ClinVar Variation Id:
384740
ClinVar RCV Id:
RCV000440043
dbSNP Id:
rs770044583
ExAC:
12:58142296 C / G
gnomAD v2:
12-58142296-C-G
gnomAD v4:
12-57748513-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57748513C>G , CM000674.2:g.57748513C>G | GRCh38 |
| NC_000012.11:g.58142296C>G , CM000674.1:g.58142296C>G | GRCh37 |
| NC_000012.10:g.56428563C>G | NCBI36 |
| NG_007484.2:g.8869G>C , LRG_490:g.8869G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257904.11:c.*12G>C (CDK4) MANE Select | ENSP00000257904.5:n.*12G>C | |
| ENST00000257910.8:c.*1223C>G (TSPAN31) MANE Select | ENSP00000257910.3:n.*1223C>G | |
| ENST00000257904.10:c.*12G>C (CDK4) | ENSP00000257904.5:n.*12G>C | |
| ENST00000312990.10:c.*236G>C (CDK4) | ENSP00000316889.6:n.*236G>C | |
| ENST00000547992.5:c.*1223C>G (TSPAN31) | ENSP00000448209.1:n.*1223C>G | |
| ENST00000549606.5:c.*12G>C (CDK4) | ENSP00000447005.1:n.*12G>C | |
| ENST00000552713.5:n.583G>C (CDK4) | ||
| NM_000075.3:c.*12G>C (CDK4) | NP_000066.1:n.*12G>C | |
| NM_000075.4:c.*12G>C (CDK4) MANE Select | NP_000066.1:n.*12G>C | |
| NM_005981.5:c.*1223C>G (TSPAN31) MANE Select | NP_005972.1:n.*1223C>G | |
| NM_001330168.2:c.*1223C>G (TSPAN31) | NP_001317097.1:n.*1223C>G | |
| NM_001330169.2:c.*1223C>G (TSPAN31) | NP_001317098.1:n.*1223C>G |