Linked Data
ClinVar Variation Id:
135453
ClinVar RCV Id:
RCV000122310
RCV001107941
RCV001107942
RCV000782221
RCV001081231
RCV001107940
RCV002255305
RCV002284191
RCV004551194
RCV003588578
dbSNP Id:
rs2234584
ExAC:
11:32450067 G / A
gnomAD v2:
11-32450067-G-A
gnomAD v3:
11-32428521-G-A
gnomAD v4:
11-32428521-G-A
COSMIC:
COSM21963
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32428521G>A , CM000673.2:g.32428521G>A | GRCh38 |
| NC_000011.9:g.32450067G>A , CM000673.1:g.32450067G>A | GRCh37 |
| NC_000011.8:g.32406643G>A | NCBI36 |
| NG_009272.1:g.12021C>T , LRG_525:g.12021C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.760C>T | ENSP00000331327.5:p.Pro254Ser | |
| ENST00000379077.9:c.760C>T | ENSP00000368368.5:p.Pro254Ser | |
| ENST00000379079.8:c.109C>T | ENSP00000368370.2:p.Pro37Ser | |
| ENST00000448076.9:c.760C>T | ENSP00000413452.5:p.Pro254Ser | |
| ENST00000452863.10:c.760C>T MANE Select | ENSP00000415516.5:p.Pro254Ser | |
| ENST00000639563.3:c.760C>T | ENSP00000492269.3:p.Pro254Ser | |
| ENST00000640146.2:c.136C>T | ENSP00000491984.2:p.Pro46Ser | |
| ENST00000332351.7:c.745C>T | ENSP00000331327.3:p.Pro249Ser | |
| ENST00000379077.7:c.745C>T | ENSP00000368368.3:p.Pro249Ser | |
| ENST00000379079.6:c.109C>T | ENSP00000368370.2:p.Pro37Ser | |
| ENST00000448076.7:c.745C>T | ENSP00000413452.3:p.Pro249Ser | |
| ENST00000452863.7:c.745C>T | ENSP00000415516.3:p.Pro249Ser | |
| ENST00000527775.1:c.-3C>T | ENSP00000435351.1:n.-3C>T | |
| ENST00000530998.5:c.109C>T | ENSP00000435307.1:p.Pro37Ser | |
| NM_000378.4:c.745C>T | NP_000369.3:p.Pro249Ser | |
| NM_001198551.1:c.109C>T , LRG_525t2:c.109C>T | NP_001185480.1:p.Pro37Ser | |
| NM_001198552.1:c.109C>T | NP_001185481.1:p.Pro37Ser | |
| NM_024424.3:c.745C>T | NP_077742.2:p.Pro249Ser | |
| NM_024426.4:c.745C>T | NP_077744.3:p.Pro249Ser | |
| NM_000378.5:c.760C>T | NP_000369.4:p.Pro254Ser | |
| NM_024424.4:c.760C>T | NP_077742.3:p.Pro254Ser | |
| NM_024426.5:c.760C>T | NP_077744.4:p.Pro254Ser | |
| NR_160306.1:n.939C>T | ||
| NM_000378.6:c.760C>T | NP_000369.4:p.Pro254Ser | |
| NM_001198552.2:c.109C>T | NP_001185481.1:p.Pro37Ser | |
| NM_024424.5:c.760C>T | NP_077742.3:p.Pro254Ser | |
| NM_024426.6:c.760C>T MANE Select | NP_077744.4:p.Pro254Ser |