Linked Data
ClinVar Variation Id:
319438
dbSNP Id:
rs756943416
ExAC:
16:50744663 C / T
gnomAD v2:
16-50744663-C-T
gnomAD v3:
16-50710752-C-T
gnomAD v4:
16-50710752-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50710752C>T , CM000678.2:g.50710752C>T | GRCh38 |
| NC_000016.9:g.50744663C>T , CM000678.1:g.50744663C>T | GRCh37 |
| NC_000016.8:g.49302164C>T | NCBI36 |
| NG_007508.1:g.18614C>T , LRG_177:g.18614C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641284.2:c.760C>T | ENSP00000493088.1:p.Leu254Phe | |
| ENST00000646677.2:c.760C>T | ENSP00000496533.1:p.Leu254Phe | |
| ENST00000641284.1:c.760C>T | ENSP00000493088.1:p.Leu254Phe | |
| ENST00000646677.1:c.760C>T | ENSP00000496533.1:p.Leu254Phe | |
| ENST00000647318.2:c.760C>T MANE Select | ENSP00000495993.1:p.Leu254Phe | |
| ENST00000300589.6:c.841C>T | ENSP00000300589.2:p.Leu281Phe | |
| ENST00000526417.6:n.901C>T | ||
| ENST00000527070.5:c.*1456C>T | ENSP00000435149.1:n.*1456C>T | |
| ENST00000532206.1:n.839C>T | ||
| NM_001293557.1:c.760C>T | NP_001280486.1:p.Leu254Phe | |
| NM_022162.2:c.841C>T | NP_071445.1:p.Leu281Phe | |
| XM_005256084.2:c.760C>T | XP_005256141.1:p.Leu254Phe | |
| XM_006721242.2:c.760C>T | XP_006721305.1:p.Leu254Phe | |
| XM_006721243.2:c.760C>T | XP_006721306.1:p.Leu254Phe | |
| XM_011523257.1:c.337C>T | XP_011521559.1:p.Leu113Phe | |
| XM_011523258.1:c.337C>T | XP_011521560.1:p.Leu113Phe | |
| XM_011523259.1:c.175C>T | XP_011521561.1:p.Leu59Phe | |
| XM_011523260.1:c.760C>T | XP_011521562.1:p.Leu254Phe | |
| XM_011523261.1:c.760C>T | XP_011521563.1:p.Leu254Phe | |
| XR_429725.2:n.850C>T | ||
| XR_429726.2:n.850C>T | ||
| XR_933387.1:n.850C>T | ||
| XM_005256084.4:c.760C>T | XP_005256141.1:p.Leu254Phe | |
| XM_006721242.4:c.760C>T | XP_006721305.1:p.Leu254Phe | |
| XM_006721243.4:c.760C>T | XP_006721306.1:p.Leu254Phe | |
| XM_011523259.2:c.175C>T | XP_011521561.1:p.Leu59Phe | |
| XM_011523260.3:c.760C>T | XP_011521562.1:p.Leu254Phe | |
| XM_011523261.2:c.760C>T | XP_011521563.1:p.Leu254Phe | |
| XM_017023535.1:c.268C>T | XP_016879024.1:p.Leu90Phe | |
| XM_017023536.1:c.175C>T | XP_016879025.1:p.Leu59Phe | |
| XM_017023537.1:c.175C>T | XP_016879026.1:p.Leu59Phe | |
| XM_017023538.1:c.175C>T | XP_016879027.1:p.Leu59Phe | |
| XR_429725.3:n.803C>T | ||
| XR_429726.3:n.803C>T | ||
| XR_933387.2:n.803C>T | ||
| NM_001293557.2:c.760C>T | NP_001280486.1:p.Leu254Phe | |
| NM_001370466.1:c.760C>T MANE Select | NP_001357395.1:p.Leu254Phe | |
| NM_022162.3:c.841C>T | NP_071445.1:p.Leu281Phe | |
| NR_163434.1:n.825C>T |