Linked Data
ClinVar Variation Id:
209009
dbSNP Id:
rs797045152
gnomAD v4:
5-55220382-C-T
PubMed:
PMID:20301301
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55220382C>T , CM000667.2:g.55220382C>T | GRCh38 |
| NC_000005.9:g.54516210C>T , CM000667.1:g.54516210C>T | GRCh37 |
| NC_000005.8:g.54551967C>T | NCBI36 |
| NG_051620.1:g.11934G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513312.3:c.1142G>A MANE Select | ENSP00000426359.1:p.Arg381His | |
| ENST00000513312.1:c.1142G>A | ENSP00000426359.1:p.Arg381His | |
| ENST00000513468.5:c.*606G>A | ENSP00000422165.1:n.*606G>A | |
| NM_001190787.1:c.1142G>A | NP_001177716.1:p.Arg381His | |
| XM_017009439.2:c.749G>A | XP_016864928.1:p.Arg250His | |
| NM_001190787.3:c.1142G>A MANE Select | NP_001177716.1:p.Arg381His |