Linked Data
ClinVar Variation Id:
744566
ClinVar RCV Id:
RCV000921032
dbSNP Id:
rs374685958
ExAC:
3:129251196 C / T
gnomAD v2:
3-129251196-C-T
gnomAD v3:
3-129532353-C-T
gnomAD v4:
3-129532353-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532353C>T , CM000665.2:g.129532353C>T | GRCh38 |
| NC_000003.11:g.129251196C>T , CM000665.1:g.129251196C>T | GRCh37 |
| NC_000003.10:g.130733886C>T | NCBI36 |
| NG_009115.1:g.8715C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.633C>T MANE Select | ENSP00000296271.3:p.His211= | |
| ENST00000296271.3:c.633C>T | ENSP00000296271.3:p.His211= | |
| NM_000539.3:c.633C>T MANE Select | NP_000530.1:p.His211= |