Linked Data
ClinVar Variation Id:
16615
ClinVar RCV Id:
RCV000018090
dbSNP Id:
rs121434566
ExAC:
17:56274355 G / A
gnomAD v2:
17-56274355-G-A
gnomAD v3:
17-58196994-G-A
gnomAD v4:
17-58196994-G-A
PubMed:
PMID:7809065
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58196994G>A , CM000679.2:g.58196994G>A | GRCh38 |
| NC_000017.10:g.56274355G>A , CM000679.1:g.56274355G>A | GRCh37 |
| NC_000017.9:g.53629354G>A | NCBI36 |
| NG_013020.1:g.9267G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225371.6:c.857G>A MANE Select | ENSP00000225371.5:p.Arg286His | |
| ENST00000225371.5:c.857G>A | ENSP00000225371.5:p.Arg286His | |
| NM_000502.4:c.857G>A | NP_000493.1:p.Arg286His | |
| NM_000502.5:c.857G>A | NP_000493.1:p.Arg286His | |
| NM_000502.6:c.857G>A MANE Select | NP_000493.1:p.Arg286His |