Linked Data
ClinVar Variation Id:
2528461
ClinVar RCV Id:
RCV003275288
dbSNP Id:
rs544158479
ExAC:
3:190126133 A / T
gnomAD v2:
3-190126133-A-T
gnomAD v3:
3-190408344-A-T
gnomAD v4:
3-190408344-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190408344A>T , CM000665.2:g.190408344A>T | GRCh38 |
| NC_000003.11:g.190126133A>T , CM000665.1:g.190126133A>T | GRCh37 |
| NC_000003.10:g.191608827A>T | NCBI36 |
| NG_008149.1:g.25293A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.413A>T MANE Select | ENSP00000264734.3:p.Tyr138Phe | |
| ENST00000456423.2:c.115-1559A>T | ENSP00000414136.2:n.115-1559A>T | |
| ENST00000264734.2:c.623A>T | ENSP00000264734.2:p.Tyr208Phe | |
| ENST00000456423.1:c.325-1559A>T | ENSP00000414136.1:n.325-1559A>T | |
| NM_006580.3:c.623A>T | NP_006571.1:p.Tyr208Phe | |
| NM_001378492.1:c.413A>T | NP_001365421.1:p.Tyr138Phe | |
| NM_001378493.1:c.413A>T | NP_001365422.1:p.Tyr138Phe | |
| NM_006580.4:c.413A>T MANE Select | NP_006571.2:p.Tyr138Phe |