Linked Data
ClinVar Variation Id:
1003873
ClinVar RCV Id:
RCV001300489
dbSNP Id:
rs371704034
ExAC:
22:50662835 C / G
gnomAD v2:
22-50662835-C-G
gnomAD v3:
22-50224406-C-G
gnomAD v4:
22-50224406-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50224406C>G , CM000684.2:g.50224406C>G | GRCh38 |
| NC_000022.10:g.50662835C>G , CM000684.1:g.50662835C>G | GRCh37 |
| NC_000022.9:g.49004962C>G | NCBI36 |
| NG_032160.1:g.25566G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.2080G>C MANE Select | ENSP00000248846.5:p.Glu694Gln | |
| ENST00000248846.9:c.2080G>C | ENSP00000248846.5:p.Glu694Gln | |
| ENST00000439308.6:c.2080G>C | ENSP00000397387.2:p.Glu694Gln | |
| ENST00000473946.1:n.389G>C | ||
| ENST00000489511.5:n.97G>C | ||
| ENST00000491449.5:n.387G>C | ||
| ENST00000498611.5:n.2613G>C | ||
| NM_020461.3:c.2080G>C | NP_065194.2:p.Glu694Gln | |
| XR_938347.1:n.2645G>C | ||
| XR_938348.1:n.2645G>C | ||
| XR_001755343.2:n.2649G>C | ||
| XR_001755344.2:n.2649G>C | ||
| XR_002958720.1:n.2649G>C | ||
| XR_938347.2:n.2649G>C | ||
| NM_020461.4:c.2080G>C MANE Select | NP_065194.3:p.Glu694Gln |