Linked Data
ClinVar Variation Id:
56394
ClinVar RCV Id:
RCV000049807
dbSNP Id:
rs386833839
PubMed:
PMID:20500450
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35907559C>T , CM000681.2:g.35907559C>T | GRCh38 |
| NC_000019.9:g.36398461C>T , CM000681.1:g.36398461C>T | GRCh37 |
| NC_000019.8:g.41090301C>T | NCBI36 |
| NG_009304.1:g.5726G>A , LRG_607:g.5726G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262629.9:c.116G>A MANE Select | ENSP00000262629.3:p.Ser39Asn | |
| ENST00000262629.8:c.116G>A | ENSP00000262629.3:p.Ser39Asn | |
| ENST00000424586.7:c.83G>A | ENSP00000402371.3:p.Ser28Asn | |
| ENST00000544690.6:c.83G>A | ENSP00000445332.1:p.Ser28Asn | |
| ENST00000585626.1:n.183G>A | ||
| ENST00000585901.6:c.116G>A | ENSP00000468608.1:p.Ser39Asn | |
| ENST00000586946.1:c.*1G>A | ENSP00000465656.1:n.*1G>A | |
| ENST00000587837.5:c.*1G>A | ENSP00000465081.1:n.*1G>A | |
| ENST00000588439.1:n.260G>A | ||
| ENST00000589517.1:c.116G>A | ENSP00000468447.1:p.Ser39Asn | |
| NM_001173514.1:c.83G>A | NP_001166985.1:p.Ser28Asn | |
| NM_001173515.1:c.83G>A | NP_001166986.1:p.Ser28Asn | |
| NM_003332.3:c.116G>A , LRG_607t1:c.116G>A | NP_003323.1:p.Ser39Asn | |
| NM_198125.2:c.116G>A | NP_937758.1:p.Ser39Asn | |
| NR_033390.1:n.157G>A | ||
| NM_001173514.2:c.83G>A | NP_001166985.1:p.Ser28Asn | |
| NM_001173515.2:c.83G>A | NP_001166986.1:p.Ser28Asn | |
| NM_003332.4:c.116G>A MANE Select | NP_003323.1:p.Ser39Asn | |
| NM_198125.3:c.116G>A | NP_937758.1:p.Ser39Asn | |
| NR_033390.2:n.143G>A |