Linked Data
ClinVar Variation Id:
7636
ClinVar RCV Id:
RCV000008075
dbSNP Id:
rs121909127
gnomAD v4:
18-59269470-C-T
PubMed:
PMID:14662654
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59269470C>T , CM000680.2:g.59269470C>T | GRCh38 |
| NC_000018.9:g.56936702C>T , CM000680.1:g.56936702C>T | GRCh37 |
| NC_000018.8:g.55087682C>T | NCBI36 |
| NG_013031.1:g.8924G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334889.4:c.575G>A MANE Select | ENSP00000334813.3:p.Arg192Gln | |
| ENST00000256852.7:c.*6G>A | ENSP00000256852.7:n.*6G>A | |
| ENST00000334889.3:c.575G>A | ENSP00000334813.3:p.Arg192Gln | |
| NM_013435.2:c.575G>A | NP_038463.2:p.Arg192Gln | |
| NM_013435.3:c.575G>A MANE Select | NP_038463.2:p.Arg192Gln |