Linked Data
ClinVar Variation Id:
207836
ClinVar RCV Id:
RCV000190130
dbSNP Id:
rs796052144
gnomAD v4:
10-92606392-G-A
PubMed:
PMID:26132555
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92606392G>A , CM000672.2:g.92606392G>A | GRCh38 |
| NC_000010.10:g.94366149G>A , CM000672.1:g.94366149G>A | GRCh37 |
| NC_000010.9:g.94356129G>A | NCBI36 |
| NG_032580.1:g.18325G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260731.5:c.205G>A MANE Select | ENSP00000260731.3:p.Asp69Asn | |
| ENST00000676621.1:c.205G>A | ENSP00000503639.1:p.Asp69Asn | |
| ENST00000676647.1:c.-3G>A | ENSP00000503394.1:n.-3G>A | |
| ENST00000676757.1:c.-3G>A | ENSP00000504289.1:n.-3G>A | |
| ENST00000677720.1:c.205G>A | ENSP00000504840.1:p.Asp69Asn | |
| ENST00000260731.4:c.205G>A | ENSP00000260731.3:p.Asp69Asn | |
| NM_004523.3:c.205G>A | NP_004514.2:p.Asp69Asn | |
| NM_004523.4:c.205G>A MANE Select | NP_004514.2:p.Asp69Asn |