Linked Data
ClinVar Variation Id:
2574753
ClinVar RCV Id:
RCV003319650
dbSNP Id:
rs775463187
gnomAD v3:
1-152304599-C-A
gnomAD v4:
1-152304599-C-A
COSMIC:
COSM3984235
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152304599C>A , CM000663.2:g.152304599C>A | GRCh38 |
| NC_000001.10:g.152277075C>A , CM000663.1:g.152277075C>A | GRCh37 |
| NC_000001.9:g.150543699C>A | NCBI36 |
| NG_016190.1:g.25605G>T , LRG_1028:g.25605G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.10287G>T MANE Select | ENSP00000357789.1:p.Glu3429Asp | |
| ENST00000368799.1:c.10287G>T | ENSP00000357789.1:p.Glu3429Asp | |
| NM_002016.1:c.10287G>T , LRG_1028t1:c.10287G>T | NP_002007.1:p.Glu3429Asp | |
| XM_011509329.1:c.9109-766G>T | XP_011507631.1:n.9109-766G>T | |
| NM_002016.2:c.10287G>T MANE Select | NP_002007.1:p.Glu3429Asp |