Linked Data
ClinVar Variation Id:
224917
ClinVar RCV Id:
RCV000239727
dbSNP Id:
rs587777161
PubMed:
PMID:27550844
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.10213734G>C , CM000685.2:g.10213734G>C | GRCh38 |
| NC_000023.10:g.10181774G>C , CM000685.1:g.10181774G>C | GRCh37 |
| NC_000023.9:g.10141774G>C | NCBI36 |
| NG_012496.1:g.61790G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380833.9:c.1630G>C MANE Select | ENSP00000370213.4:p.Gly544Arg | |
| ENST00000421085.7:c.1654G>C | ENSP00000405754.3:p.Gly552Arg | |
| ENST00000674669.1:c.1348G>C | ENSP00000501922.1:p.Gly450Arg | |
| ENST00000675144.1:c.*1404G>C | ENSP00000501600.1:n.*1404G>C | |
| ENST00000675769.1:c.1630G>C | ENSP00000502110.1:p.Gly544Arg | |
| ENST00000380829.5:c.1537G>C | ENSP00000370209.1:p.Gly513Arg | |
| ENST00000380833.8:c.1630G>C | ENSP00000370213.4:p.Gly544Arg | |
| ENST00000421085.6:c.1348G>C | ENSP00000405754.2:p.Gly450Arg | |
| NM_001256944.1:c.1348G>C | NP_001243873.1:p.Gly450Arg | |
| NM_001830.3:c.1630G>C | NP_001821.2:p.Gly544Arg | |
| NM_001830.4:c.1630G>C MANE Select | NP_001821.2:p.Gly544Arg | |
| NM_001256944.2:c.1348G>C | NP_001243873.1:p.Gly450Arg |