Linked Data
ClinVar Variation Id:
285098
dbSNP Id:
rs201818140
ExAC:
4:3475193 G / A
gnomAD v2:
4-3475193-G-A
gnomAD v3:
4-3473466-G-A
gnomAD v4:
4-3473466-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3473466G>A , CM000666.2:g.3473466G>A | GRCh38 |
| NC_000004.11:g.3475193G>A , CM000666.1:g.3475193G>A | GRCh37 |
| NC_000004.10:g.3444991G>A | NCBI36 |
| NG_013072.2:g.15161G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340083.6:c.161G>A MANE Select | ENSP00000344432.5:p.Arg54His | |
| ENST00000643608.1:c.100+9915G>A | ENSP00000495701.1:n.100+9915G>A | |
| ENST00000340083.5:c.161G>A | ENSP00000344432.5:p.Arg54His | |
| ENST00000503688.5:n.165+9915G>A | ||
| ENST00000507039.5:c.161G>A | ENSP00000423614.1:p.Arg54His | |
| ENST00000511267.5:n.180G>A | ||
| NM_001164673.1:c.161G>A | NP_001158145.1:p.Arg54His | |
| NM_001301071.1:c.161G>A | NP_001288000.1:p.Arg54His | |
| NM_173660.4:c.161G>A | NP_775931.3:p.Arg54His | |
| XM_011513435.1:c.161G>A | XP_011511737.1:p.Arg54His | |
| XM_011513436.1:c.161G>A | XP_011511738.1:p.Arg54His | |
| XM_011513437.1:c.-243G>A | XP_011511739.1:n.-243G>A | |
| NM_001363811.1:c.100+9915G>A | NP_001350740.1:n.100+9915G>A | |
| XM_011513435.2:c.161G>A | XP_011511737.1:p.Arg54His | |
| XM_011513437.2:c.-243G>A | XP_011511739.1:n.-243G>A | |
| NM_173660.5:c.161G>A MANE Select | NP_775931.3:p.Arg54His | |
| NM_001164673.2:c.161G>A | NP_001158145.1:p.Arg54His | |
| NM_001301071.2:c.161G>A | NP_001288000.1:p.Arg54His | |
| NM_001363811.2:c.100+9915G>A | NP_001350740.1:n.100+9915G>A |