Linked Data
ClinVar Variation Id:
444881
ClinVar RCV Id:
RCV000513568
dbSNP Id:
rs1432218739
PubMed:
PMID:28805828
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46689173G>C , CM000682.2:g.46689173G>C | GRCh38 |
| NC_000020.10:g.45317812G>C , CM000682.1:g.45317812G>C | GRCh37 |
| NC_000020.9:g.44751219G>C | NCBI36 |
| NG_047182.1:g.313C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372114.4:c.242C>G MANE Select | ENSP00000361186.3:p.Thr81Arg | |
| ENST00000372102.3:c.242C>G | ENSP00000361174.3:p.Thr81Arg | |
| ENST00000372114.3:c.242C>G | ENSP00000361186.3:p.Thr81Arg | |
| NM_033550.3:c.242C>G | NP_291028.3:p.Thr81Arg | |
| NM_033550.4:c.242C>G MANE Select | NP_291028.3:p.Thr81Arg |