Linked Data
ClinVar Variation Id:
7913
ClinVar RCV Id:
RCV000008374
RCV000008375
RCV000085512
RCV000152706
RCV000294335
RCV000349295
RCV000392936
RCV000399411
RCV001002837
RCV001101950
RCV003887858
dbSNP Id:
rs1801581
ExAC:
1:94512565 C / T
gnomAD v2:
1-94512565-C-T
gnomAD v3:
1-94047009-C-T
gnomAD v4:
1-94047009-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94047009C>T , CM000663.2:g.94047009C>T | GRCh38 |
| NC_000001.10:g.94512565C>T , CM000663.1:g.94512565C>T | GRCh37 |
| NC_000001.9:g.94285153C>T | NCBI36 |
| NG_009073.1:g.79141G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2828G>A MANE Select | ENSP00000359245.3:p.Arg943Gln | |
| ENST00000649773.1:c.2606G>A | ENSP00000496882.1:p.Arg869Gln | |
| ENST00000370225.3:c.2828G>A | ENSP00000359245.3:p.Arg943Gln | |
| ENST00000536513.5:c.-64-6920G>A | ENSP00000439707.2:n.-64-6920G>A | |
| NM_000350.2:c.2828G>A | NP_000341.2:p.Arg943Gln | |
| NM_000350.3:c.2828G>A MANE Select | NP_000341.2:p.Arg943Gln |