Linked Data
ClinVar Variation Id:
17834
ClinVar RCV Id:
RCV000019412
dbSNP Id:
rs104894331
PubMed:
PMID:9048343
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49951033A>G , CM000674.2:g.49951033A>G | GRCh38 |
| NC_000012.11:g.50344816A>G , CM000674.1:g.50344816A>G | GRCh37 |
| NC_000012.10:g.48631083A>G | NCBI36 |
| NG_008913.1:g.5293A>G , LRG_717:g.5293A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199280.4:c.203A>G MANE Select | ENSP00000199280.3:p.Asn68Ser | |
| ENST00000199280.3:c.203A>G | ENSP00000199280.3:p.Asn68Ser | |
| ENST00000550862.1:c.203A>G | ENSP00000450022.1:p.Asn68Ser | |
| ENST00000551526.5:c.203A>G | ENSP00000447148.1:p.Asn68Ser | |
| NM_000486.5:c.203A>G , LRG_717t1:c.203A>G | NP_000477.1:p.Asn68Ser | |
| NM_000486.6:c.203A>G MANE Select | NP_000477.1:p.Asn68Ser |