Linked Data
ClinVar Variation Id:
3173784
ClinVar RCV Id:
RCV004469081
dbSNP Id:
rs143989572
ExAC:
17:27822600 G / A
gnomAD v2:
17-27822600-G-A
gnomAD v3:
17-29495582-G-A
gnomAD v4:
17-29495582-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29495582G>A , CM000679.2:g.29495582G>A | GRCh38 |
| NC_000017.10:g.27822600G>A , CM000679.1:g.27822600G>A | GRCh37 |
| NC_000017.9:g.24846726G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261716.8:c.854G>A MANE Select | ENSP00000261716.3:p.Arg285His | |
| ENST00000261716.7:c.854G>A | ENSP00000261716.3:p.Arg285His | |
| ENST00000536202.1:c.854G>A | ENSP00000438819.1:p.Arg285His | |
| ENST00000577583.1:n.702G>A | ||
| NM_020791.2:c.854G>A | NP_065842.1:p.Arg285His | |
| NM_025142.1:c.854G>A | NP_079418.1:p.Arg285His | |
| XM_011525060.1:c.854G>A | XP_011523362.1:p.Arg285His | |
| XM_011525060.2:c.854G>A | XP_011523362.1:p.Arg285His | |
| NM_020791.4:c.854G>A MANE Select | NP_065842.1:p.Arg285His |