Linked Data
ClinVar Variation Id:
469599
ClinVar RCV Id:
RCV000557596
dbSNP Id:
rs1020769441
ExAC:
12:5154161 G / A
gnomAD v2:
12-5154161-G-A
gnomAD v4:
12-5044995-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044995G>A , CM000674.2:g.5044995G>A | GRCh38 |
| NC_000012.11:g.5154161G>A , CM000674.1:g.5154161G>A | GRCh37 |
| NC_000012.10:g.5024422G>A | NCBI36 |
| NG_012198.1:g.6077G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.848G>A MANE Select | ENSP00000252321.3:p.Arg283His | |
| ENST00000252321.4:c.848G>A | ENSP00000252321.3:p.Arg283His | |
| NM_002234.3:c.848G>A | NP_002225.2:p.Arg283His | |
| NM_002234.4:c.848G>A MANE Select | NP_002225.2:p.Arg283His |