Linked Data
ClinVar Variation Id:
444890
ClinVar RCV Id:
RCV000512749
dbSNP Id:
rs144732839
ExAC:
14:20915804 C / T
gnomAD v2:
14-20915804-C-T
gnomAD v3:
14-20447645-C-T
gnomAD v4:
14-20447645-C-T
PubMed:
PMID:28805828
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20447645C>T , CM000676.2:g.20447645C>T | GRCh38 |
| NC_000014.8:g.20915804C>T , CM000676.1:g.20915804C>T | GRCh37 |
| NC_000014.7:g.19985644C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206542.9:c.839G>A MANE Select | ENSP00000206542.4:p.Arg280His | |
| ENST00000206542.8:c.839G>A | ENSP00000206542.4:p.Arg280His | |
| ENST00000553292.1:n.44G>A | ||
| ENST00000554249.5:n.717G>A | ||
| ENST00000555223.5:c.759G>A | ||
| ENST00000555656.5:n.2260G>A | ||
| ENST00000556124.3:n.1200G>A | ||
| NM_017807.3:c.839G>A | NP_060277.1:p.Arg280His | |
| XM_011536930.1:c.782G>A | XP_011535232.1:p.Arg261His | |
| XM_011536931.1:c.596G>A | XP_011535233.1:p.Arg199His | |
| XM_011536932.1:c.596G>A | XP_011535234.1:p.Arg199His | |
| NM_017807.4:c.839G>A MANE Select | NP_060277.1:p.Arg280His |