Linked Data
ClinVar Variation Id:
696149
dbSNP Id:
rs2227434
ExAC:
4:155487143 C / T
gnomAD v2:
4-155487143-C-T
gnomAD v3:
4-154565991-C-T
gnomAD v4:
4-154565991-C-T
COSMIC:
COSM3601130
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154565991C>T , CM000666.2:g.154565991C>T | GRCh38 |
| NC_000004.11:g.155487143C>T , CM000666.1:g.155487143C>T | GRCh37 |
| NC_000004.10:g.155706593C>T | NCBI36 |
| NG_008833.1:g.8012C>T , LRG_558:g.8012C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302068.9:c.298C>T MANE Select | ENSP00000306099.4:p.Pro100Ser | |
| ENST00000302068.8:c.298C>T | ENSP00000306099.4:p.Pro100Ser | |
| ENST00000425838.5:c.*210C>T | ENSP00000398719.1:n.*210C>T | |
| ENST00000473984.1:n.211C>T | ||
| ENST00000497097.5:n.305C>T | ||
| ENST00000498375.2:n.928C>T | ||
| ENST00000502545.5:n.279C>T | ||
| ENST00000509493.1:c.-167-1602C>T | ENSP00000426757.1:n.-167-1602C>T | |
| NM_001184741.1:c.165+133C>T | NP_001171670.1:n.165+133C>T | |
| NM_005141.4:c.298C>T , LRG_558t1:c.298C>T | NP_005132.2:p.Pro100Ser | |
| NM_001382759.1:c.298C>T | NP_001369688.1:p.Pro100Ser | |
| NM_001382760.1:c.298C>T | NP_001369689.1:p.Pro100Ser | |
| NM_001382761.1:c.298C>T | NP_001369690.1:p.Pro100Ser | |
| NM_001382762.1:c.298C>T | NP_001369691.1:p.Pro100Ser | |
| NM_001382763.1:c.298C>T | NP_001369692.1:p.Pro100Ser | |
| NM_001382764.1:c.298C>T | NP_001369693.1:p.Pro100Ser | |
| NM_001382765.1:c.298C>T | NP_001369694.1:p.Pro100Ser | |
| NM_005141.5:c.298C>T MANE Select | NP_005132.2:p.Pro100Ser |