Linked Data
ClinVar Variation Id:
293459
ClinVar RCV Id:
RCV000307242
dbSNP Id:
rs139968594
ExAC:
1:168262449 G / A
gnomAD v2:
1-168262449-G-A
gnomAD v3:
1-168293211-G-A
gnomAD v4:
1-168293211-G-A
COSMIC:
COSM899184
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168293211G>A , CM000663.2:g.168293211G>A | GRCh38 |
| NC_000001.10:g.168262449G>A , CM000663.1:g.168262449G>A | GRCh37 |
| NC_000001.9:g.166529073G>A | NCBI36 |
| NG_008244.1:g.17172G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367821.8:c.536G>A MANE Select | ENSP00000356795.3:p.Arg179Gln | |
| ENST00000367821.7:c.536G>A | ENSP00000356795.3:p.Arg179Gln | |
| ENST00000431969.5:c.333G>A | ||
| NM_005149.2:c.536G>A | NP_005140.1:p.Arg179Gln | |
| NM_005149.3:c.536G>A MANE Select | NP_005140.1:p.Arg179Gln |