Linked Data
ClinVar Variation Id:
9140
dbSNP Id:
rs121917850
ExAC:
8:63976853 C / T
gnomAD v2:
8-63976853-C-T
gnomAD v3:
8-63064294-C-T
gnomAD v4:
8-63064294-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63064294C>T , CM000670.2:g.63064294C>T | GRCh38 |
| NC_000008.10:g.63976853C>T , CM000670.1:g.63976853C>T | GRCh37 |
| NC_000008.9:g.64139407C>T | NCBI36 |
| NG_016123.1:g.26760G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260116.5:c.575G>A MANE Select | ENSP00000260116.4:p.Arg192His | |
| ENST00000260116.4:c.575G>A | ENSP00000260116.4:p.Arg192His | |
| ENST00000521138.1:n.233-15691G>A | ||
| NM_000370.3:c.575G>A MANE Select | NP_000361.1:p.Arg192His | |
| XM_006716468.2:c.227G>A | XP_006716531.1:p.Arg76His | |
| XM_006716468.4:c.227G>A | XP_006716531.1:p.Arg76His |