Linked Data
ClinVar Variation Id:
13317
ClinVar RCV Id:
RCV000014245
dbSNP Id:
rs121918473
gnomAD v4:
3-93898524-T-C
PubMed:
PMID:7545463
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93898524T>C , CM000665.2:g.93898524T>C | GRCh38 |
| NC_000003.11:g.93617368T>C , CM000665.1:g.93617368T>C | GRCh37 |
| NC_000003.10:g.95100058T>C | NCBI36 |
| NG_009813.1:g.80567A>G , LRG_572:g.80567A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348974.5:c.773A>G | ENSP00000330021.7:p.Asn258Ser | |
| ENST00000394236.9:c.773A>G MANE Select | ENSP00000377783.3:p.Asn258Ser | |
| ENST00000407433.6:c.728A>G | ENSP00000385794.2:p.Asn243Ser | |
| ENST00000647936.1:c.773A>G | ENSP00000496822.1:p.Asn258Ser | |
| ENST00000648381.1:n.941A>G | ||
| ENST00000648853.1:c.731A>G | ENSP00000497262.1:p.Asn244Ser | |
| ENST00000649103.1:c.872A>G | ENSP00000497962.1:n.872A>G | |
| ENST00000650591.1:c.869A>G | ENSP00000497376.1:p.Asn290Ser | |
| ENST00000394236.7:c.773A>G | ENSP00000377783.3:p.Asn258Ser | |
| ENST00000407433.5:c.380A>G | ENSP00000385794.1:p.Asn127Ser | |
| NM_000313.3:c.773A>G , LRG_572t1:c.773A>G | NP_000304.2:p.Asn258Ser | |
| NM_001314077.1:c.869A>G , LRG_572t2:c.869A>G | NP_001301006.1:p.Asn290Ser | |
| NM_000313.4:c.773A>G MANE Select | NP_000304.2:p.Asn258Ser | |
| NM_001314077.2:c.869A>G | NP_001301006.1:p.Asn290Ser |