Linked Data
ClinVar Variation Id:
1357409
ClinVar RCV Id:
RCV001893980
dbSNP Id:
rs2084801700
gnomAD v4:
3-129533716-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129533716T>G , CM000665.2:g.129533716T>G | GRCh38 |
| NC_000003.11:g.129252559T>G , CM000665.1:g.129252559T>G | GRCh37 |
| NC_000003.10:g.130735249T>G | NCBI36 |
| NG_009115.1:g.10078T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.1045T>G MANE Select | ENSP00000296271.3:p.Ter349Glu | |
| ENST00000296271.3:c.1045T>G | ENSP00000296271.3:p.Ter349Glu | |
| NM_000539.3:c.1045T>G MANE Select | NP_000530.1:p.Ter349Glu |