Linked Data
ClinVar Variation Id:
246400
dbSNP Id:
rs879254241
gnomAD v2:
12-58142322-C-T
gnomAD v3:
12-57748539-C-T
gnomAD v4:
12-57748539-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57748539C>T , CM000674.2:g.57748539C>T | GRCh38 |
| NC_000012.11:g.58142322C>T , CM000674.1:g.58142322C>T | GRCh37 |
| NC_000012.10:g.56428589C>T | NCBI36 |
| NG_007484.2:g.8843G>A , LRG_490:g.8843G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257904.11:c.898G>A (CDK4) MANE Select | ENSP00000257904.5:p.Gly300Ser | |
| ENST00000257910.8:c.*1249C>T (TSPAN31) MANE Select | ENSP00000257910.3:n.*1249C>T | |
| ENST00000257904.10:c.898G>A (CDK4) | ENSP00000257904.5:p.Gly300Ser | |
| ENST00000312990.10:c.*210G>A (CDK4) | ENSP00000316889.6:n.*210G>A | |
| ENST00000547992.5:c.*1249C>T (TSPAN31) | ENSP00000448209.1:n.*1249C>T | |
| ENST00000549606.5:c.109G>A (CDK4) | ENSP00000447005.1:p.Gly37Ser | |
| ENST00000552713.5:n.557G>A (CDK4) | ||
| ENST00000553237.5:c.*537G>A (CDK4) | ENSP00000448885.1:n.*537G>A | |
| NM_000075.3:c.898G>A (CDK4) | NP_000066.1:p.Gly300Ser | |
| NM_000075.4:c.898G>A (CDK4) MANE Select | NP_000066.1:p.Gly300Ser | |
| NM_005981.5:c.*1249C>T (TSPAN31) MANE Select | NP_005972.1:n.*1249C>T | |
| NM_001330168.2:c.*1249C>T (TSPAN31) | NP_001317097.1:n.*1249C>T | |
| NM_001330169.2:c.*1249C>T (TSPAN31) | NP_001317098.1:n.*1249C>T |