Linked Data
ClinVar Variation Id:
242679
ClinVar RCV Id:
RCV001056831
dbSNP Id:
rs281864918
ExAC:
5:151231024 C / T
gnomAD v2:
5-151231024-C-T
gnomAD v3:
5-151851463-C-T
gnomAD v4:
5-151851463-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151851463C>T , CM000667.2:g.151851463C>T | GRCh38 |
| NC_000005.9:g.151231024C>T , CM000667.1:g.151231024C>T | GRCh37 |
| NC_000005.8:g.151211217C>T | NCBI36 |
| NG_011764.1:g.78374G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.839G>A MANE Select | ENSP00000274576.5:p.Arg280His | |
| ENST00000274576.8:c.839G>A | ENSP00000274576.4:p.Arg280His | |
| ENST00000455880.2:c.839G>A | ENSP00000411593.2:p.Arg280His | |
| ENST00000462581.6:c.*597G>A | ENSP00000430595.1:n.*597G>A | |
| ENST00000471351.2:n.1122G>A | ||
| NM_000171.3:c.839G>A | NP_000162.2:p.Arg280His | |
| NM_001146040.1:c.839G>A | NP_001139512.1:p.Arg280His | |
| NM_001292000.1:c.590G>A | NP_001278929.1:p.Arg197His | |
| XM_005268412.2:c.839G>A | XP_005268469.1:p.Arg280His | |
| NM_000171.4:c.839G>A MANE Select | NP_000162.2:p.Arg280His | |
| NM_001146040.2:c.839G>A | NP_001139512.1:p.Arg280His | |
| NM_001292000.2:c.590G>A | NP_001278929.1:p.Arg197His |