Linked Data
ClinVar Variation Id:
56396
ClinVar RCV Id:
RCV000049809
dbSNP Id:
rs386833841
gnomAD v2:
19-36398432-C-G
gnomAD v4:
19-35907530-C-G
PubMed:
PMID:15883308
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35907530C>G , CM000681.2:g.35907530C>G | GRCh38 |
| NC_000019.9:g.36398432C>G , CM000681.1:g.36398432C>G | GRCh37 |
| NC_000019.8:g.41090272C>G | NCBI36 |
| NG_009304.1:g.5755G>C , LRG_607:g.5755G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262629.9:c.145G>C MANE Select | ENSP00000262629.3:p.Gly49Arg | |
| ENST00000262629.8:c.145G>C | ENSP00000262629.3:p.Gly49Arg | |
| ENST00000424586.7:c.112G>C | ENSP00000402371.3:p.Gly38Arg | |
| ENST00000544690.6:c.112G>C | ENSP00000445332.1:p.Gly38Arg | |
| ENST00000585626.1:n.212G>C | ||
| ENST00000585901.6:c.145G>C | ENSP00000468608.1:p.Gly49Arg | |
| ENST00000586946.1:c.*30G>C | ENSP00000465656.1:n.*30G>C | |
| ENST00000587837.5:c.*30G>C | ENSP00000465081.1:n.*30G>C | |
| ENST00000588439.1:n.289G>C | ||
| ENST00000589517.1:c.145G>C | ENSP00000468447.1:p.Gly49Arg | |
| NM_001173514.1:c.112G>C | NP_001166985.1:p.Gly38Arg | |
| NM_001173515.1:c.112G>C | NP_001166986.1:p.Gly38Arg | |
| NM_003332.3:c.145G>C , LRG_607t1:c.145G>C | NP_003323.1:p.Gly49Arg | |
| NM_198125.2:c.145G>C | NP_937758.1:p.Gly49Arg | |
| NR_033390.1:n.186G>C | ||
| NM_001173514.2:c.112G>C | NP_001166985.1:p.Gly38Arg | |
| NM_001173515.2:c.112G>C | NP_001166986.1:p.Gly38Arg | |
| NM_003332.4:c.145G>C MANE Select | NP_003323.1:p.Gly49Arg | |
| NM_198125.3:c.145G>C | NP_937758.1:p.Gly49Arg | |
| NR_033390.2:n.172G>C |