Linked Data
ClinVar Variation Id:
208402
ClinVar RCV Id:
RCV000202340
dbSNP Id:
rs61734270
ExAC:
20:48140626 C / T
gnomAD v2:
20-48140626-C-T
gnomAD v3:
20-49524089-C-T
gnomAD v4:
20-49524089-C-T
PubMed:
PMID:26508570
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.49524089C>T , CM000682.2:g.49524089C>T | GRCh38 |
| NC_000020.10:g.48140626C>T , CM000682.1:g.48140626C>T | GRCh37 |
| NC_000020.9:g.47574033C>T | NCBI36 |
| NG_007940.1:g.49082G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244043.5:c.824G>A MANE Select | ENSP00000244043.3:p.Arg275Gln | |
| ENST00000244043.4:c.824G>A | ENSP00000244043.3:p.Arg275Gln | |
| ENST00000478971.1:n.645G>A | ||
| NM_000961.3:c.824G>A | NP_000952.1:p.Arg275Gln | |
| NM_000961.4:c.824G>A MANE Select | NP_000952.1:p.Arg275Gln |