Linked Data
ClinVar Variation Id:
1056969
ClinVar RCV Id:
RCV001365877
dbSNP Id:
rs1468393625
gnomAD v2:
1-68895575-C-T
gnomAD v3:
1-68429892-C-T
gnomAD v4:
1-68429892-C-T
COSMIC:
COSM376498
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429892C>T , CM000663.2:g.68429892C>T | GRCh38 |
| NC_000001.10:g.68895575C>T , CM000663.1:g.68895575C>T | GRCh37 |
| NC_000001.9:g.68668163C>T | NCBI36 |
| NG_008472.1:g.25068G>A | |
| NG_008472.2:g.25068G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1486G>A MANE Select | ENSP00000262340.5:p.Gly496Arg | |
| ENST00000262340.5:c.1486G>A | ENSP00000262340.5:p.Gly496Arg | |
| NM_000329.2:c.1486G>A | NP_000320.1:p.Gly496Arg | |
| XM_017002027.1:c.1210G>A | XP_016857516.1:p.Gly404Arg | |
| NM_000329.3:c.1486G>A MANE Select | NP_000320.1:p.Gly496Arg |