Linked Data
ClinVar Variation Id:
15857
ClinVar RCV Id:
RCV000017203
dbSNP Id:
rs34472107
gnomAD v4:
16-177325-C-T
COSMIC:
COSM3888198
PubMed:
PMID:8294200
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177325C>T , CM000678.2:g.177325C>T | GRCh38 |
| NC_000016.9:g.227324C>T , CM000678.1:g.227324C>T | GRCh37 |
| NC_000016.8:g.167324C>T | NCBI36 |
| NG_000006.1:g.38188C>T | |
| NG_059186.1:g.5675C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.343C>T MANE Select | ENSP00000322421.5:p.Pro115Ser | |
| ENST00000397797.1:c.247C>T | ENSP00000380899.1:p.Pro83Ser | |
| ENST00000472694.1:n.479C>T | ||
| NM_000558.4:c.343C>T | NP_000549.1:p.Pro115Ser | |
| NM_000558.5:c.343C>T MANE Select | NP_000549.1:p.Pro115Ser |