Linked Data
ClinVar Variation Id:
359596
dbSNP Id:
rs201793112
ExAC:
7:21598493 A / T
gnomAD v2:
7-21598493-A-T
gnomAD v3:
7-21558875-A-T
gnomAD v4:
7-21558875-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21558875A>T , CM000669.2:g.21558875A>T | GRCh38 |
| NC_000007.13:g.21598493A>T , CM000669.1:g.21598493A>T | GRCh37 |
| NC_000007.12:g.21565018A>T | NCBI36 |
| NG_012886.2:g.20661A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.569A>T MANE Select | ENSP00000475939.1:p.Tyr190Phe | |
| ENST00000328843.10:c.569A>T | ENSP00000330671.7:p.Tyr190Phe | |
| ENST00000409508.7:c.569A>T | ENSP00000475939.1:p.Tyr190Phe | |
| ENST00000620169.4:c.569A>T | ENSP00000481693.1:p.Tyr190Phe | |
| NM_001277115.1:c.569A>T | NP_001264044.1:p.Tyr190Phe | |
| NM_001277115.2:c.569A>T MANE Select | NP_001264044.1:p.Tyr190Phe |