Linked Data
ClinVar Variation Id:
56161
ClinVar RCV Id:
RCV000049571
dbSNP Id:
rs386834228
COSMIC:
COSM4682216
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169525949C>T , CM000663.2:g.169525949C>T | GRCh38 |
| NC_000001.10:g.169495187C>T , CM000663.1:g.169495187C>T | GRCh37 |
| NC_000001.9:g.167761811C>T | NCBI36 |
| NG_011806.1:g.65583G>A , LRG_553:g.65583G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367797.9:c.5668G>A MANE Select | ENSP00000356771.3:p.Glu1890Lys | |
| ENST00000367796.3:c.5683G>A | ENSP00000356770.3:p.Glu1895Lys | |
| ENST00000367797.7:c.5668G>A | ENSP00000356771.3:p.Glu1890Lys | |
| NM_000130.4:c.5668G>A , LRG_553t1:c.5668G>A | NP_000121.2:p.Glu1890Lys | |
| XM_017000660.2:c.5257G>A | XP_016856149.1:p.Glu1753Lys | |
| NM_000130.5:c.5668G>A MANE Select | NP_000121.2:p.Glu1890Lys |