Linked Data
ClinVar Variation Id:
39564
ClinVar RCV Id:
RCV000032764
RCV000238689
RCV000791040
RCV003319173
RCV002513307
RCV004017273
RCV003447099
dbSNP Id:
rs117225135
ExAC:
10:12154929 G / A
gnomAD v2:
10-12154929-G-A
gnomAD v3:
10-12112930-G-A
gnomAD v4:
10-12112930-G-A
PubMed:
PMID:23141293
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12112930G>A , CM000672.2:g.12112930G>A | GRCh38 |
| NC_000010.10:g.12154929G>A , CM000672.1:g.12154929G>A | GRCh37 |
| NC_000010.9:g.12194935G>A | NCBI36 |
| NG_033248.1:g.49014G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263035.9:c.2185G>A MANE Select | ENSP00000263035.4:p.Gly729Arg | |
| ENST00000263035.8:c.2185G>A | ENSP00000263035.4:p.Gly729Arg | |
| ENST00000448829.1:c.688G>A | ||
| NM_018706.6:c.2185G>A | NP_061176.3:p.Gly729Arg | |
| NM_018706.7:c.2185G>A MANE Select | NP_061176.4:p.Gly729Arg |