Linked Data
ClinVar Variation Id:
2180216
ClinVar RCV Id:
RCV002619145
dbSNP Id:
rs778786413
ExAC:
3:150645895 T / A
gnomAD v2:
3-150645895-T-A
gnomAD v3:
3-150928108-T-A
gnomAD v4:
3-150928108-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150928108T>A , CM000665.2:g.150928108T>A | GRCh38 |
| NC_000003.11:g.150645895T>A , CM000665.1:g.150645895T>A | GRCh37 |
| NC_000003.10:g.152128585T>A | NCBI36 |
| NG_009168.1:g.49892A>T , LRG_700:g.49892A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.527A>T MANE Select | ENSP00000322280.1:p.Tyr176Phe | |
| ENST00000468836.2:c.675A>T | ENSP00000419892.2:n.675A>T | |
| ENST00000295911.6:c.299A>T | ENSP00000295911.2:p.Tyr100Phe | |
| ENST00000327047.5:c.527A>T | ENSP00000322280.1:p.Tyr176Phe | |
| ENST00000328863.8:c.566A>T | ENSP00000329158.4:p.Tyr189Phe | |
| ENST00000468836.1:c.299A>T | ENSP00000419892.1:p.Tyr100Phe | |
| ENST00000562308.5:c.104+13474A>T | ||
| ENST00000565169.1:c.162+13474A>T | ||
| ENST00000569170.5:c.162+13474A>T | ||
| NM_001195794.1:c.566A>T , LRG_700t1:c.566A>T | NP_001182723.1:p.Tyr189Phe | |
| NM_001256819.1:c.*141A>T | NP_001243748.1:n.*141A>T | |
| NM_052995.2:c.299A>T , LRG_700t2:c.299A>T | NP_443721.1:p.Tyr100Phe | |
| NM_174878.2:c.527A>T | NP_777367.1:p.Tyr176Phe | |
| NR_046380.2:n.1008A>T | ||
| XR_924167.1:n.839A>T | ||
| NM_001256819.2:c.*141A>T | NP_001243748.1:n.*141A>T | |
| NM_174878.3:c.527A>T MANE Select | NP_777367.1:p.Tyr176Phe | |
| NR_046380.3:n.736A>T |