Linked Data
ClinVar Variation Id:
402138
dbSNP Id:
rs779613772
ExAC:
12:125451713 C / T
gnomAD v2:
12-125451713-C-T
gnomAD v3:
12-124967167-C-T
gnomAD v4:
12-124967167-C-T
COSMIC:
COSM5980427
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.124967167C>T , CM000674.2:g.124967167C>T | GRCh38 |
| NC_000012.11:g.125451713C>T , CM000674.1:g.125451713C>T | GRCh37 |
| NC_000012.10:g.124017666C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308736.7:c.1460G>A MANE Select | ENSP00000311135.2:p.Arg487His | |
| ENST00000544745.2:c.931G>A | ||
| ENST00000679875.1:n.1532G>A | ||
| ENST00000308736.6:c.1460G>A | ENSP00000311135.2:p.Arg487His | |
| ENST00000539298.1:n.1560G>A | ||
| ENST00000544745.1:c.821G>A | ENSP00000439009.1:p.Arg274His | |
| NM_032656.3:c.1460G>A | NP_116045.2:p.Arg487His | |
| XM_005253590.2:c.1460G>A | XP_005253647.1:p.Arg487His | |
| XM_011538597.1:c.1460G>A | XP_011536899.1:p.Arg487His | |
| XM_011538598.1:c.1460G>A | XP_011536900.1:p.Arg487His | |
| XM_011538599.1:c.1460G>A | XP_011536901.1:p.Arg487His | |
| XM_011538600.1:c.1460G>A | XP_011536902.1:p.Arg487His | |
| XM_005253590.3:c.1460G>A | XP_005253647.1:p.Arg487His | |
| XM_011538598.2:c.1460G>A | XP_011536900.1:p.Arg487His | |
| XM_011538600.2:c.1460G>A | XP_011536902.1:p.Arg487His | |
| XR_001748819.1:n.1563G>A | ||
| XR_001748820.1:n.1563G>A | ||
| NM_032656.4:c.1460G>A MANE Select | NP_116045.2:p.Arg487His |