Linked Data
ClinVar Variation Id:
660298
ClinVar RCV Id:
RCV000817463
dbSNP Id:
rs774491349
ExAC:
17:6607276 C / A
gnomAD v2:
17-6607276-C-A
gnomAD v3:
17-6703957-C-A
gnomAD v4:
17-6703957-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6703957C>A , CM000679.2:g.6703957C>A | GRCh38 |
| NC_000017.10:g.6607276C>A , CM000679.1:g.6607276C>A | GRCh37 |
| NC_000017.9:g.6548000C>A | NCBI36 |
| NG_034220.1:g.14465G>T , LRG_1020:g.14465G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433363.7:c.468G>T MANE Select | ENSP00000406220.2:p.Leu156Phe | |
| ENST00000293800.10:c.417G>T | ENSP00000293800.6:p.Leu139Phe | |
| ENST00000381074.8:c.339G>T | ENSP00000370464.4:p.Leu113Phe | |
| ENST00000433363.6:c.468G>T | ENSP00000406220.2:p.Leu156Phe | |
| ENST00000572094.1:c.*218G>T | ENSP00000461495.1:n.*218G>T | |
| ENST00000572352.5:c.357G>T | ENSP00000461622.1:p.Leu119Phe | |
| ENST00000573648.5:c.468G>T | ENSP00000459372.1:p.Leu156Phe | |
| ENST00000574824.5:n.1601G>T | ||
| ENST00000576323.1:n.498G>T | ||
| NM_001143838.2:c.468G>T | NP_001137310.1:p.Leu156Phe | |
| NM_001284509.1:c.417G>T | NP_001271438.1:p.Leu139Phe | |
| NM_001284510.1:c.339G>T | NP_001271439.1:p.Leu113Phe | |
| NM_177550.4:c.468G>T , LRG_1020t1:c.468G>T | NP_808218.1:p.Leu156Phe | |
| XM_006721504.2:c.357G>T | XP_006721567.1:p.Leu119Phe | |
| XM_011523795.1:c.468G>T | XP_011522097.1:p.Leu156Phe | |
| XM_011523795.3:c.468G>T | XP_011522097.1:p.Leu156Phe | |
| NM_001143838.3:c.468G>T | NP_001137310.1:p.Leu156Phe | |
| NM_001284509.2:c.417G>T | NP_001271438.1:p.Leu139Phe | |
| NM_001284510.2:c.339G>T | NP_001271439.1:p.Leu113Phe | |
| NM_177550.5:c.468G>T MANE Select | NP_808218.1:p.Leu156Phe |