Linked Data
ClinVar Variation Id:
129140
ClinVar RCV Id:
RCV000117127
dbSNP Id:
rs587780343
ERepo:
CA152950/MONDO:0015967/086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145638C>A , CM000669.2:g.44145638C>A | GRCh38 |
| NC_000007.13:g.44185237C>A , CM000669.1:g.44185237C>A | GRCh37 |
| NC_000007.12:g.44151762C>A | NCBI36 |
| NG_008847.1:g.48786G>T | |
| NG_008847.2:g.57533G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395796.8:c.*1110G>T | ENSP00000379142.4:n.*1110G>T | |
| ENST00000616242.5:c.*232G>T | ENSP00000482149.2:n.*232G>T | |
| ENST00000683378.1:n.338G>T | ||
| ENST00000336642.9:c.146G>T | ENSP00000338009.5:p.Cys49Phe | |
| ENST00000345378.7:c.1115G>T | ENSP00000223366.2:p.Cys372Phe | |
| ENST00000403799.8:c.1112G>T MANE Select | ENSP00000384247.3:p.Cys371Phe | |
| ENST00000671824.1:c.1175G>T | ENSP00000500264.1:p.Cys392Phe | |
| ENST00000672743.1:n.124G>T | ||
| ENST00000673284.1:c.1112G>T | ENSP00000499852.1:p.Cys371Phe | |
| ENST00000336642.8:c.164G>T | ENSP00000338009.4:p.Cys55Phe | |
| ENST00000345378.6:c.1115G>T | ENSP00000223366.2:p.Cys372Phe | |
| ENST00000395796.7:c.1109G>T | ENSP00000379142.3:p.Cys370Phe | |
| ENST00000403799.7:c.1112G>T | ENSP00000384247.3:p.Cys371Phe | |
| ENST00000437084.1:c.1061G>T | ENSP00000402840.1:p.Cys354Phe | |
| ENST00000459642.1:n.492G>T | ||
| ENST00000616242.4:c.1109G>T | ENSP00000482149.1:p.Cys370Phe | |
| NM_000162.3:c.1112G>T | NP_000153.1:p.Cys371Phe | |
| NM_033507.1:c.1115G>T | NP_277042.1:p.Cys372Phe | |
| NM_033508.1:c.1109G>T | NP_277043.1:p.Cys370Phe | |
| NM_000162.4:c.1112G>T | NP_000153.1:p.Cys371Phe | |
| NM_001354800.1:c.1112G>T | NP_001341729.1:p.Cys371Phe | |
| NM_001354801.1:c.101G>T | NP_001341730.1:p.Cys34Phe | |
| NM_001354802.1:c.-29G>T | NP_001341731.1:n.-29G>T | |
| NM_001354803.1:c.146G>T | NP_001341732.1:p.Cys49Phe | |
| NM_033507.2:c.1115G>T | NP_277042.1:p.Cys372Phe | |
| NM_033508.2:c.1109G>T | NP_277043.1:p.Cys370Phe | |
| XM_024446707.1:c.-29G>T | XP_024302475.1:n.-29G>T | |
| NM_000162.5:c.1112G>T MANE Select | NP_000153.1:p.Cys371Phe | |
| NM_033507.3:c.1115G>T | NP_277042.1:p.Cys372Phe | |
| NM_033508.3:c.1109G>T | NP_277043.1:p.Cys370Phe | |
| NM_001354803.2:c.146G>T | NP_001341732.1:p.Cys49Phe |