Linked Data
ClinVar Variation Id:
1742334
ClinVar RCV Id:
RCV002335165
dbSNP Id:
rs1786849433
gnomAD v3:
7-21636042-A-T
gnomAD v4:
7-21636042-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21636042A>T , CM000669.2:g.21636042A>T | GRCh38 |
| NC_000007.13:g.21675660A>T , CM000669.1:g.21675660A>T | GRCh37 |
| NC_000007.12:g.21642185A>T | NCBI36 |
| NG_012886.2:g.97828A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.4672A>T MANE Select | ENSP00000475939.1:p.Ile1558Phe | |
| ENST00000328843.10:c.4687A>T | ENSP00000330671.7:p.Ile1563Phe | |
| ENST00000409508.7:c.4672A>T | ENSP00000475939.1:p.Ile1558Phe | |
| ENST00000465593.1:n.698A>T | ||
| ENST00000620169.4:c.4687A>T | ENSP00000481693.1:p.Ile1563Phe | |
| NM_001277115.1:c.4672A>T | NP_001264044.1:p.Ile1558Phe | |
| NM_001277115.2:c.4672A>T MANE Select | NP_001264044.1:p.Ile1558Phe |