Linked Data
ClinVar Variation Id:
3218773
ClinVar RCV Id:
RCV004515148
dbSNP Id:
rs1360731511
gnomAD v2:
19-54385795-G-A
gnomAD v4:
19-53882541-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53882541G>A , CM000681.2:g.53882541G>A | GRCh38 |
| NC_000019.9:g.54385795G>A , CM000681.1:g.54385795G>A | GRCh37 |
| NC_000019.8:g.59077607G>A | NCBI36 |
| NG_009114.1:g.5329G>A , LRG_669:g.5329G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.47G>A | ENSP00000507230.1:p.Arg16Gln | |
| ENST00000682268.1:n.345G>A | ||
| ENST00000682902.1:n.349G>A | ||
| ENST00000683513.1:c.47G>A | ENSP00000506809.1:p.Arg16Gln | |
| ENST00000263431.4:c.47G>A MANE Select | ENSP00000263431.3:p.Arg16Gln | |
| ENST00000263431.3:c.47G>A | ENSP00000263431.3:p.Arg16Gln | |
| ENST00000419486.1:c.-322-16G>A | ENSP00000387919.2:n.-322-16G>A | |
| ENST00000474397.5:c.-322-16G>A | ENSP00000471271.1:n.-322-16G>A | |
| ENST00000479081.5:c.-322-16G>A | ENSP00000471544.1:n.-322-16G>A | |
| NM_001316329.1:c.47G>A | NP_001303258.1:p.Arg16Gln | |
| NM_002739.3:c.47G>A , LRG_669t1:c.47G>A | NP_002730.1:p.Arg16Gln | |
| NM_002739.4:c.47G>A | NP_002730.1:p.Arg16Gln | |
| NM_002739.5:c.47G>A MANE Select | NP_002730.1:p.Arg16Gln | |
| NM_001316329.2:c.47G>A | NP_001303258.1:p.Arg16Gln |