Linked Data
ClinVar Variation Id:
1026068
ClinVar RCV Id:
RCV001326470
dbSNP Id:
rs1342784720
gnomAD v2:
4-4864628-C-T
gnomAD v4:
4-4862901-C-T
COSMIC:
COSM4125002
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862901C>T , CM000666.2:g.4862901C>T | GRCh38 |
| NC_000004.11:g.4864628C>T , CM000666.1:g.4864628C>T | GRCh37 |
| NC_000004.10:g.4915529C>T | NCBI36 |
| NG_008121.1:g.8237C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.670C>T MANE Select | ENSP00000372170.4:p.Arg224Cys | |
| ENST00000382723.4:c.670C>T | ENSP00000372170.4:p.Arg224Cys | |
| ENST00000468421.1:n.382C>T | ||
| NM_002448.3:c.670C>T MANE Select | NP_002439.2:p.Arg224Cys |