Linked Data
dbSNP Id:
rs1350848952
gnomAD v2:
12-58143986-T-A
gnomAD v3:
12-57750203-T-A
gnomAD v4:
12-57750203-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57750203T>A , CM000674.2:g.57750203T>A | GRCh38 |
| NC_000012.11:g.58143986T>A , CM000674.1:g.58143986T>A | GRCh37 |
| NC_000012.10:g.56430253T>A | NCBI36 |
| NG_007484.2:g.7179A>T , LRG_490:g.7179A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257904.11:c.632+453A>T (CDK4) MANE Select | ENSP00000257904.5:n.632+453A>T | |
| ENST00000257910.8:c.*2913T>A (TSPAN31) MANE Select | ENSP00000257910.3:n.*2913T>A | |
| ENST00000257904.10:c.632+453A>T (CDK4) | ENSP00000257904.5:n.632+453A>T | |
| ENST00000312990.10:c.280+453A>T (CDK4) | ENSP00000316889.6:n.280+453A>T | |
| ENST00000546489.5:c.410+453A>T (CDK4) | ENSP00000447779.1:n.410+453A>T | |
| ENST00000547281.5:c.410+453A>T (CDK4) | ENSP00000447274.1:n.410+453A>T | |
| ENST00000547992.5:c.*2913T>A (TSPAN31) | ENSP00000448209.1:n.*2913T>A | |
| ENST00000549606.5:c.-157-699A>T (CDK4) | ENSP00000447005.1:n.-157-699A>T | |
| ENST00000550419.5:c.*38+239A>T (CDK4) | ENSP00000448098.1:n.*38+239A>T | |
| ENST00000551888.5:n.458+453A>T (CDK4) | ||
| ENST00000553237.5:c.*271+453A>T (CDK4) | ENSP00000448885.1:n.*271+453A>T | |
| NM_000075.3:c.632+453A>T (CDK4) | NP_000066.1:n.632+453A>T | |
| NM_000075.4:c.632+453A>T (CDK4) MANE Select | NP_000066.1:n.632+453A>T | |
| NM_005981.5:c.*2913T>A (TSPAN31) MANE Select | NP_005972.1:n.*2913T>A | |
| NM_001330168.2:c.*2913T>A (TSPAN31) | NP_001317097.1:n.*2913T>A | |
| NM_001330169.2:c.*2913T>A (TSPAN31) | NP_001317098.1:n.*2913T>A |