Linked Data
ClinVar Variation Id:
447710
ClinVar RCV Id:
RCV000516897
dbSNP Id:
rs765147772
gnomAD v3:
18-60371470-T-G
gnomAD v4:
18-60371470-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371470T>G , CM000680.2:g.60371470T>G | GRCh38 |
| NC_000018.9:g.58038703T>G , CM000680.1:g.58038703T>G | GRCh37 |
| NC_000018.8:g.56189683T>G | NCBI36 |
| NG_016441.1:g.6299A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.880A>C MANE Select | ENSP00000299766.3:p.Asn294His | |
| ENST00000299766.4:c.880A>C | ENSP00000299766.3:p.Asn294His | |
| NM_005912.2:c.880A>C | NP_005903.2:p.Asn294His | |
| NM_005912.3:c.880A>C MANE Select | NP_005903.2:p.Asn294His |