Linked Data
ClinVar Variation Id:
480506
dbSNP Id:
rs751528808
ExAC:
17:56780673 C / T
gnomAD v2:
17-56780673-C-T
gnomAD v4:
17-58703312-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58703312C>T , CM000679.2:g.58703312C>T | GRCh38 |
| NC_000017.10:g.56780673C>T , CM000679.1:g.56780673C>T | GRCh37 |
| NC_000017.9:g.54135672C>T | NCBI36 |
| NG_023199.1:g.15711C>T , LRG_314:g.15711C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.337C>T | ENSP00000464056.2:p.Leu113Phe | |
| ENST00000697677.1:n.1769C>T | ||
| ENST00000697678.1:n.590C>T | ||
| ENST00000697679.1:n.1762C>T | ||
| ENST00000697680.1:c.*1552C>T | ENSP00000513392.1:n.*1552C>T | |
| ENST00000697681.1:c.*1704C>T | ENSP00000513393.1:n.*1704C>T | |
| ENST00000697683.1:c.*1552C>T | ENSP00000513395.1:n.*1552C>T | |
| ENST00000697684.1:n.748C>T | ||
| ENST00000697685.1:c.*1385C>T | ENSP00000513396.1:n.*1385C>T | |
| ENST00000697686.1:c.337C>T | ENSP00000513397.1:p.Leu113Phe | |
| ENST00000697687.1:n.567C>T | ||
| ENST00000697688.1:n.734C>T | ||
| ENST00000697689.1:c.*1224C>T | ENSP00000513398.1:n.*1224C>T | |
| ENST00000697690.1:c.688C>T | ENSP00000513399.1:p.Leu230Phe | |
| ENST00000697691.1:c.*660C>T | ENSP00000513400.1:n.*660C>T | |
| ENST00000697692.1:c.*700C>T | ENSP00000513401.1:n.*700C>T | |
| ENST00000697694.1:c.337C>T | ENSP00000513402.1:p.Leu113Phe | |
| ENST00000697695.1:n.1295C>T | ||
| ENST00000337432.9:c.688C>T MANE Select | ENSP00000336701.4:p.Leu230Phe | |
| ENST00000337432.8:c.688C>T | ENSP00000336701.4:p.Leu230Phe | |
| ENST00000413590.5:c.326C>T | ||
| ENST00000425173.5:c.484C>T | ENSP00000407282.1:p.Leu162Phe | |
| ENST00000461271.5:c.337C>T | ENSP00000464056.1:p.Leu113Phe | |
| ENST00000475762.5:c.*1391C>T | ENSP00000432421.1:n.*1391C>T | |
| ENST00000482007.5:c.*116C>T | ENSP00000433332.1:n.*116C>T | |
| ENST00000487525.5:c.*116C>T | ENSP00000431637.1:n.*116C>T | |
| ENST00000487921.5:n.600C>T | ||
| ENST00000583539.5:c.688C>T | ENSP00000463121.1:p.Leu230Phe | |
| ENST00000584617.5:c.410C>T | ||
| NM_058216.2:c.688C>T | NP_478123.1:p.Leu230Phe | |
| NR_103872.1:n.592C>T | ||
| XM_006722001.2:c.688C>T | XP_006722064.1:p.Leu230Phe | |
| XM_006722002.2:c.688C>T | XP_006722065.1:p.Leu230Phe | |
| XM_006722004.2:c.337C>T | XP_006722067.1:p.Leu113Phe | |
| XM_006722005.2:c.337C>T | XP_006722068.1:p.Leu113Phe | |
| XM_011525092.1:c.337C>T | XP_011523394.1:p.Leu113Phe | |
| XM_011525093.1:c.337C>T | XP_011523395.1:p.Leu113Phe | |
| XM_011525094.1:c.337C>T | XP_011523396.1:p.Leu113Phe | |
| XR_934513.1:n.761C>T | ||
| XR_934514.1:n.761C>T | ||
| XM_006722001.4:c.688C>T | XP_006722064.1:p.Leu230Phe | |
| XM_006722002.4:c.688C>T | XP_006722065.1:p.Leu230Phe | |
| XM_006722004.3:c.337C>T | XP_006722067.1:p.Leu113Phe | |
| XM_006722005.3:c.337C>T | XP_006722068.1:p.Leu113Phe | |
| XM_011525092.2:c.337C>T | XP_011523394.1:p.Leu113Phe | |
| XM_011525093.2:c.337C>T | XP_011523395.1:p.Leu113Phe | |
| XM_011525094.2:c.337C>T | XP_011523396.1:p.Leu113Phe | |
| XM_017024914.1:c.337C>T | XP_016880403.1:p.Leu113Phe | |
| XM_017024915.1:c.337C>T | XP_016880404.1:p.Leu113Phe | |
| XM_017024916.1:c.337C>T | XP_016880405.1:p.Leu113Phe | |
| XM_017024917.1:c.337C>T | XP_016880406.1:p.Leu113Phe | |
| XM_017024918.2:c.337C>T | XP_016880407.1:p.Leu113Phe | |
| XM_017024919.1:c.337C>T | XP_016880408.1:p.Leu113Phe | |
| XR_934513.3:n.1192C>T | ||
| XR_934514.3:n.1192C>T | ||
| NM_058216.3:c.688C>T MANE Select | NP_478123.1:p.Leu230Phe | |
| NR_103872.2:n.563C>T |