Linked Data
ClinVar Variation Id:
9315
ClinVar RCV Id:
RCV000009900
dbSNP Id:
rs137852631
PubMed:
PMID:10620137
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52651587T>C , CM000674.2:g.52651587T>C | GRCh38 |
| NC_000012.11:g.53045371T>C , CM000674.1:g.53045371T>C | GRCh37 |
| NC_000012.10:g.51331638T>C | NCBI36 |
| NG_008296.1:g.5589A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.556A>G MANE Select | ENSP00000310861.3:p.Asn186Asp | |
| ENST00000309680.3:c.556A>G | ENSP00000310861.3:p.Asn186Asp | |
| NM_000423.2:c.556A>G | NP_000414.2:p.Asn186Asp | |
| NM_000423.3:c.556A>G MANE Select | NP_000414.2:p.Asn186Asp |