Linked Data
ClinVar Variation Id:
2879873
ClinVar RCV Id:
RCV003626491
dbSNP Id:
rs1434519437
gnomAD v3:
18-31598664-C-T
gnomAD v4:
18-31598664-C-T
COSMIC:
COSM5937776
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31598664C>T , CM000680.2:g.31598664C>T | GRCh38 |
| NC_000018.9:g.29178627C>T , CM000680.1:g.29178627C>T | GRCh37 |
| NC_000018.8:g.27432625C>T | NCBI36 |
| NG_009490.1:g.11898C>T , LRG_416:g.11898C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000237014.8:c.433C>T MANE Select | ENSP00000237014.4:p.Pro145Ser | |
| ENST00000610404.5:c.337C>T | ENSP00000477599.2:p.Pro113Ser | |
| ENST00000649620.1:c.433C>T | ENSP00000497927.1:p.Pro145Ser | |
| ENST00000237014.7:c.433C>T | ENSP00000237014.3:p.Pro145Ser | |
| ENST00000610404.4:c.547C>T | ENSP00000477599.1:p.Pro183Ser | |
| ENST00000613781.1:c.409C>T | ENSP00000479174.1:p.Pro137Ser | |
| NM_000371.3:c.433C>T , LRG_416t1:c.433C>T | NP_000362.1:p.Pro145Ser | |
| NM_000371.4:c.433C>T MANE Select | NP_000362.1:p.Pro145Ser |