Linked Data
ClinVar Variation Id:
12574
ClinVar RCV Id:
RCV000013402
dbSNP Id:
rs28933407
gnomAD v3:
8-127738431-C-T
gnomAD v4:
8-127738431-C-T
PubMed:
PMID:8220424
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127738431C>T , CM000670.2:g.127738431C>T | GRCh38 |
| NC_000008.10:g.128750677C>T , CM000670.1:g.128750677C>T | GRCh37 |
| NC_000008.9:g.128819859C>T | NCBI36 |
| NG_007161.1:g.7362C>T | |
| NG_007161.2:g.7998C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707113.1:c.169C>T | ENSP00000516742.1:p.Pro57Ser | |
| ENST00000707114.1:c.169C>T | ENSP00000516743.1:p.Pro57Ser | |
| ENST00000707115.1:c.169C>T | ENSP00000516744.1:p.Pro57Ser | |
| ENST00000707116.1:c.169C>T | ENSP00000516745.1:p.Pro57Ser | |
| ENST00000517291.2:c.211C>T | ENSP00000429441.2:p.Pro71Ser | |
| ENST00000524013.2:c.211C>T | ENSP00000430235.2:p.Pro71Ser | |
| ENST00000621592.8:c.214C>T MANE Select | ENSP00000478887.2:p.Pro72Ser | |
| ENST00000651626.1:c.-132C>T | ENSP00000499182.1:n.-132C>T | |
| ENST00000652288.1:c.169C>T | ENSP00000499105.1:p.Pro57Ser | |
| ENST00000259523.10:c.169C>T | ENSP00000259523.6:p.Pro57Ser | |
| ENST00000377970.6:c.169C>T | ENSP00000367207.3:p.Pro57Ser | |
| ENST00000517291.1:c.211C>T | ENSP00000429441.1:p.Pro71Ser | |
| ENST00000520751.1:c.135C>T | ENSP00000430226.1:p.Cys45= | |
| ENST00000524013.1:c.211C>T | ENSP00000430235.1:p.Pro71Ser | |
| ENST00000613283.1:c.214C>T | ENSP00000479618.1:p.Pro72Ser | |
| ENST00000621592.5:c.214C>T | ENSP00000478887.1:p.Pro72Ser | |
| NM_002467.4:c.214C>T | NP_002458.2:p.Pro72Ser | |
| NM_001354870.1:c.211C>T | NP_001341799.1:p.Pro71Ser | |
| NM_002467.5:c.214C>T | NP_002458.2:p.Pro72Ser | |
| NM_002467.6:c.214C>T MANE Select | NP_002458.2:p.Pro72Ser |