Linked Data
ClinVar Variation Id:
2550289
ClinVar RCV Id:
RCV004317908
dbSNP Id:
rs910609427
gnomAD v2:
11-102575469-C-T
gnomAD v3:
11-102704738-C-T
gnomAD v4:
11-102704738-C-T
COSMIC:
COSM4990042
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102704738C>T , CM000673.2:g.102704738C>T | GRCh38 |
| NC_000011.9:g.102575469C>T , CM000673.1:g.102575469C>T | GRCh37 |
| NC_000011.8:g.102080679C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260229.5:c.140G>A MANE Select | ENSP00000260229.4:p.Gly47Glu | |
| ENST00000260229.4:c.140G>A | ENSP00000260229.4:p.Gly47Glu | |
| NM_022122.2:c.140G>A | NP_071405.2:p.Gly47Glu | |
| XM_011542948.1:c.140G>A | XP_011541250.1:p.Gly47Glu | |
| XM_011542949.1:c.140G>A | XP_011541251.1:p.Gly47Glu | |
| XM_011542950.1:c.26+875G>A | XP_011541252.1:n.26+875G>A | |
| XM_011542951.1:c.140G>A | XP_011541253.1:p.Gly47Glu | |
| XM_011542948.2:c.140G>A | XP_011541250.1:p.Gly47Glu | |
| XM_011542949.2:c.140G>A | XP_011541251.1:p.Gly47Glu | |
| XM_011542950.3:c.26+875G>A | XP_011541252.1:n.26+875G>A | |
| XM_017018120.1:c.140G>A | XP_016873609.1:p.Gly47Glu | |
| NM_022122.3:c.140G>A MANE Select | NP_071405.2:p.Gly47Glu |