Linked Data
ClinVar Variation Id:
264710
ClinVar RCV Id:
RCV000254593
dbSNP Id:
rs886039241
PubMed:
PMID:26394807
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.35663574G>A , CM000673.2:g.35663574G>A | GRCh38 |
| NC_000011.9:g.35685122G>A , CM000673.1:g.35685122G>A | GRCh37 |
| NC_000011.8:g.35641698G>A | NCBI36 |
| NG_052784.1:g.5883G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299413.7:c.463G>A MANE Select | ENSP00000299413.5:p.Gly155Arg | |
| ENST00000299413.6:c.463G>A | ENSP00000299413.5:p.Gly155Arg | |
| NM_017583.5:c.463G>A | NP_060053.2:p.Gly155Arg | |
| XM_006718254.1:c.463G>A | XP_006718317.1:p.Gly155Arg | |
| NM_017583.6:c.463G>A MANE Select | NP_060053.2:p.Gly155Arg |