Linked Data
ClinVar Variation Id:
2894558
ClinVar RCV Id:
RCV003725880
dbSNP Id:
rs1171093745
gnomAD v4:
3-129530964-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129530964G>C , CM000665.2:g.129530964G>C | GRCh38 |
| NC_000003.11:g.129249807G>C , CM000665.1:g.129249807G>C | GRCh37 |
| NC_000003.10:g.130732497G>C | NCBI36 |
| NG_009115.1:g.7326G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296271.4:c.450G>C MANE Select | ENSP00000296271.3:p.Glu150Asp | |
| ENST00000296271.3:c.450G>C | ENSP00000296271.3:p.Glu150Asp | |
| NM_000539.3:c.450G>C MANE Select | NP_000530.1:p.Glu150Asp |