Linked Data
ClinVar Variation Id:
1361566
ClinVar RCV Id:
RCV001899734
dbSNP Id:
rs1555161482
gnomAD v2:
12-7170254-C-T
gnomAD v4:
12-7062950-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7062950C>T , CM000674.2:g.7062950C>T | GRCh38 |
| NC_000012.11:g.7170254C>T , CM000674.1:g.7170254C>T | GRCh37 |
| NC_000012.10:g.7040515C>T | NCBI36 |
| NG_011694.1:g.7275C>T , LRG_25:g.7275C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000473545.2:n.859C>T | ||
| ENST00000488701.2:n.791C>T | ||
| ENST00000495053.2:n.604C>T | ||
| ENST00000698563.1:n.817C>T | ||
| ENST00000698564.1:n.790C>T | ||
| ENST00000698565.1:n.1010C>T | ||
| ENST00000360817.10:c.274C>T MANE Select | ENSP00000354057.5:p.His92Tyr | |
| ENST00000328916.7:c.274C>T | ENSP00000328173.3:p.His92Tyr | |
| ENST00000360817.9:c.274C>T | ENSP00000354057.5:p.His92Tyr | |
| ENST00000402681.7:c.-228C>T | ENSP00000384171.3:n.-228C>T | |
| ENST00000403949.5:c.274C>T | ENSP00000384464.1:p.His92Tyr | |
| ENST00000406697.5:c.274C>T | ENSP00000385035.1:p.His92Tyr | |
| ENST00000413211.5:c.274C>T | ENSP00000406643.1:p.His92Tyr | |
| ENST00000423384.5:c.274C>T | ENSP00000399892.1:p.His92Tyr | |
| ENST00000443875.5:c.348C>T | ||
| ENST00000541647.1:n.256C>T | ||
| ENST00000542978.1:c.-111+288C>T | ENSP00000442298.1:n.-111+288C>T | |
| ENST00000617865.4:c.220C>T | ENSP00000484657.1:p.His74Tyr | |
| NM_001734.3:c.274C>T , LRG_25t1:c.274C>T | NP_001725.1:p.His92Tyr | |
| NM_201442.2:c.274C>T | NP_958850.1:p.His92Tyr | |
| XM_005253760.1:c.274C>T | XP_005253817.1:p.His92Tyr | |
| NM_001346850.1:c.-228C>T | NP_001333779.1:n.-228C>T | |
| NM_001734.4:c.274C>T | NP_001725.1:p.His92Tyr | |
| NM_201442.3:c.274C>T | NP_958850.1:p.His92Tyr | |
| XM_005253760.2:c.274C>T | XP_005253817.1:p.His92Tyr | |
| NM_001734.5:c.274C>T MANE Select | NP_001725.1:p.His92Tyr | |
| NM_001346850.2:c.-228C>T | NP_001333779.1:n.-228C>T | |
| NM_201442.4:c.274C>T | NP_958850.1:p.His92Tyr |