Linked Data
ClinVar Variation Id:
1078775
ClinVar RCV Id:
RCV001393809
dbSNP Id:
rs200248198
ExAC:
3:129249765 C / T
gnomAD v2:
3-129249765-C-T
gnomAD v3:
3-129530922-C-T
gnomAD v4:
3-129530922-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129530922C>T , CM000665.2:g.129530922C>T | GRCh38 |
| NC_000003.11:g.129249765C>T , CM000665.1:g.129249765C>T | GRCh37 |
| NC_000003.10:g.130732455C>T | NCBI36 |
| NG_009115.1:g.7284C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.408C>T MANE Select | ENSP00000296271.3:p.Tyr136= | |
| ENST00000296271.3:c.408C>T | ENSP00000296271.3:p.Tyr136= | |
| NM_000539.3:c.408C>T MANE Select | NP_000530.1:p.Tyr136= |