Linked Data
ClinVar Variation Id:
1927289
ClinVar RCV Id:
RCV002631095
dbSNP Id:
rs148801522
ExAC:
3:129247923 T / A
gnomAD v2:
3-129247923-T-A
gnomAD v3:
3-129529080-T-A
gnomAD v4:
3-129529080-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129529080T>A , CM000665.2:g.129529080T>A | GRCh38 |
| NC_000003.11:g.129247923T>A , CM000665.1:g.129247923T>A | GRCh37 |
| NC_000003.10:g.130730613T>A | NCBI36 |
| NG_009115.1:g.5442T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.347T>A MANE Select | ENSP00000296271.3:p.Phe116Tyr | |
| ENST00000296271.3:c.347T>A | ENSP00000296271.3:p.Phe116Tyr | |
| NM_000539.3:c.347T>A MANE Select | NP_000530.1:p.Phe116Tyr |