Linked Data
ClinVar Variation Id:
406376
ClinVar RCV Id:
RCV000457416
dbSNP Id:
rs1060501102
COSMIC:
COSM3771222
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189562125C>T , CM000664.2:g.189562125C>T | GRCh38 |
| NC_000002.11:g.190426851C>T , CM000664.1:g.190426851C>T | GRCh37 |
| NC_000002.10:g.190135096C>T | NCBI36 |
| NG_009027.1:g.23687G>A , LRG_837:g.23687G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261024.7:c.1469G>A MANE Select | ENSP00000261024.3:p.Gly490Asp | |
| ENST00000261024.6:c.1469G>A | ENSP00000261024.2:p.Gly490Asp | |
| NM_014585.5:c.1469G>A , LRG_837t1:c.1469G>A | NP_055400.1:p.Gly490Asp | |
| XM_005246505.1:c.1349G>A | XP_005246562.1:p.Gly450Asp | |
| XM_005246505.2:c.1349G>A | XP_005246562.1:p.Gly450Asp | |
| XM_017003938.2:c.1349G>A | XP_016859427.1:p.Gly450Asp | |
| NM_014585.6:c.1469G>A MANE Select | NP_055400.1:p.Gly490Asp |