Linked Data
ClinVar Variation Id:
16738
ClinVar RCV Id:
RCV001794454
dbSNP Id:
rs137854445
gnomAD v2:
19-856019-G-A
gnomAD v3:
19-856019-G-A
gnomAD v4:
19-856019-G-A
PubMed:
PMID:10581030
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.856019G>A , CM000681.2:g.856019G>A | GRCh38 |
| NC_000019.9:g.856019G>A , CM000681.1:g.856019G>A | GRCh37 |
| NC_000019.8:g.807019G>A | NCBI36 |
| NG_007274.1:g.1355G>A , LRG_46:g.1355G>A | |
| NG_009627.1:g.8729G>A , LRG_57:g.8729G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263621.2:c.659G>A MANE Select | ENSP00000263621.1:p.Arg220Gln | |
| ENST00000263621.1:c.659G>A | ENSP00000263621.1:p.Arg220Gln | |
| ENST00000590230.5:c.659G>A | ENSP00000466090.1:p.Arg220Gln | |
| NM_001972.2:c.659G>A , LRG_57t1:c.659G>A | NP_001963.1:p.Arg220Gln | |
| XM_011527775.1:c.659G>A | XP_011526077.1:p.Arg220Gln | |
| XM_011527776.1:c.659G>A | XP_011526078.1:p.Arg220Gln | |
| NM_001972.3:c.659G>A | NP_001963.1:p.Arg220Gln | |
| NM_001972.4:c.659G>A MANE Select | NP_001963.1:p.Arg220Gln |