Linked Data
ClinVar Variation Id:
2053795
ClinVar RCV Id:
RCV002919164
dbSNP Id:
rs781929221
ExAC:
22:19163985 C / T
gnomAD v2:
22-19163985-C-T
gnomAD v3:
22-19176472-C-T
gnomAD v4:
22-19176472-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19176472C>T , CM000684.2:g.19176472C>T | GRCh38 |
| NC_000022.10:g.19163985C>T , CM000684.1:g.19163985C>T | GRCh37 |
| NC_000022.9:g.17543985C>T | NCBI36 |
| NG_033863.1:g.7392G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215882.10:c.770G>A MANE Select | ENSP00000215882.5:p.Arg257Gln | |
| ENST00000215882.9:c.770G>A | ENSP00000215882.5:p.Arg257Gln | |
| ENST00000451283.5:c.461G>A | ENSP00000401480.1:p.Arg154Gln | |
| ENST00000470922.5:n.912G>A | ||
| NM_001256534.1:c.791G>A | NP_001243463.1:p.Arg264Gln | |
| NM_001287387.1:c.461G>A | NP_001274316.1:p.Arg154Gln | |
| NM_005984.4:c.770G>A | NP_005975.1:p.Arg257Gln | |
| NR_046298.2:n.821G>A | ||
| NM_005984.5:c.770G>A MANE Select | NP_005975.1:p.Arg257Gln | |
| NM_001256534.2:c.791G>A | NP_001243463.1:p.Arg264Gln | |
| NM_001287387.2:c.461G>A | NP_001274316.1:p.Arg154Gln | |
| NR_046298.3:n.694G>A |