Linked Data
ClinVar Variation Id:
14565
ClinVar RCV Id:
RCV000015666
dbSNP Id:
rs267607212
gnomAD v4:
12-21635574-A-G
PubMed:
PMID:10509905
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21635574A>G , CM000674.2:g.21635574A>G | GRCh38 |
| NC_000012.11:g.21788508A>G , CM000674.1:g.21788508A>G | GRCh37 |
| NC_000012.10:g.21679775A>G | NCBI36 |
| NG_017038.1:g.27282T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647960.1:c.837+1497T>C | ENSP00000497202.1:n.837+1497T>C | |
| ENST00000648372.1:n.71T>C | ||
| ENST00000673047.2:c.973T>C | ENSP00000500484.2:p.Trp325Arg | |
| ENST00000350669.5:c.973T>C MANE Select | ENSP00000229319.1:p.Trp325Arg | |
| ENST00000396076.5:c.973T>C | ENSP00000379386.1:p.Trp325Arg | |
| ENST00000470985.3:n.446T>C | ||
| ENST00000542765.4:n.440T>C | ||
| NM_001174097.1:c.973T>C | NP_001167568.1:p.Trp325Arg | |
| NM_001174097.2:c.973T>C | NP_001167568.1:p.Trp325Arg | |
| NM_001315537.1:c.973T>C | NP_001302466.1:p.Trp325Arg | |
| NM_002300.6:c.973T>C | NP_002291.1:p.Trp325Arg | |
| NM_002300.7:c.973T>C | NP_002291.1:p.Trp325Arg | |
| NM_001174097.3:c.973T>C | NP_001167568.1:p.Trp325Arg | |
| NM_001315537.2:c.973T>C | NP_001302466.1:p.Trp325Arg | |
| NM_002300.8:c.973T>C MANE Select | NP_002291.1:p.Trp325Arg |