Linked Data
ClinVar Variation Id:
139574
ClinVar RCV Id:
RCV000128461
dbSNP Id:
rs587777494
PubMed:
PMID:24747641
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.45461967C>G , CM000667.2:g.45461967C>G | GRCh38 |
| NC_000005.9:g.45462069C>G , CM000667.1:g.45462069C>G | GRCh37 |
| NC_000005.8:g.45497826C>G | NCBI36 |
| NG_042183.1:g.239152G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303230.6:c.890G>C MANE Select | ENSP00000307342.4:p.Arg297Thr | |
| ENST00000637305.1:n.53G>C | ||
| ENST00000673735.1:c.890G>C | ENSP00000501107.1:p.Arg297Thr | |
| ENST00000303230.5:c.890G>C | ENSP00000307342.4:p.Arg297Thr | |
| NM_021072.3:c.890G>C | NP_066550.2:p.Arg297Thr | |
| NM_021072.4:c.890G>C MANE Select | NP_066550.2:p.Arg297Thr |