Linked Data
ClinVar Variation Id:
544809
dbSNP Id:
rs866727908
gnomAD v4:
17-44251477-C-T
COSMIC:
COSM706172
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44251477C>T , CM000679.2:g.44251477C>T | GRCh38 |
| NC_000017.10:g.42328845C>T , CM000679.1:g.42328845C>T | GRCh37 |
| NC_000017.9:g.39684371C>T | NCBI36 |
| NG_007498.1:g.21658G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.2423G>A MANE Select | ENSP00000262418.6:p.Arg808His | |
| ENST00000262418.10:c.2423G>A | ENSP00000262418.6:p.Arg808His | |
| ENST00000399246.3:c.1325G>A | ENSP00000382190.3:p.Arg442His | |
| NM_000342.3:c.2423G>A | NP_000333.1:p.Arg808His | |
| XM_005257593.3:c.2228G>A | XP_005257650.1:p.Arg743His | |
| XM_011525129.1:c.2333G>A | XP_011523431.1:p.Arg778His | |
| XM_005257593.5:c.2228G>A | XP_005257650.1:p.Arg743His | |
| XM_011525129.2:c.2333G>A | XP_011523431.1:p.Arg778His | |
| NM_000342.4:c.2423G>A MANE Select | NP_000333.1:p.Arg808His |