Linked Data
ClinVar Variation Id:
158161
dbSNP Id:
rs545543130
ExAC:
9:123163058 G / A
gnomAD v2:
9-123163058-G-A
gnomAD v3:
9-120400780-G-A
gnomAD v4:
9-120400780-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120400780G>A , CM000671.2:g.120400780G>A | GRCh38 |
| NC_000009.11:g.123163058G>A , CM000671.1:g.123163058G>A | GRCh37 |
| NC_000009.10:g.122202879G>A | NCBI36 |
| NG_008999.1:g.184380C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360822.8:c.4723C>T | ENSP00000354065.4:p.Leu1575Phe | |
| ENST00000416449.6:c.5317C>T | ENSP00000400395.2:p.Leu1773Phe | |
| ENST00000479584.2:n.3660C>T | ||
| ENST00000684780.1:n.5703C>T | ||
| ENST00000685866.1:c.*3238C>T | ENSP00000509484.1:n.*3238C>T | |
| ENST00000686376.1:c.5256C>T | ENSP00000510021.1:n.5256C>T | |
| ENST00000686842.1:n.8967C>T | ||
| ENST00000687279.1:c.5410C>T | ENSP00000508692.1:p.Leu1804Phe | |
| ENST00000687311.1:n.5376C>T | ||
| ENST00000687633.1:c.5314C>T | ENSP00000510289.1:p.Leu1772Phe | |
| ENST00000688512.1:c.1021C>T | ENSP00000508546.1:p.Leu341Phe | |
| ENST00000688923.1:n.4548C>T | ||
| ENST00000689012.1:n.1801C>T | ||
| ENST00000689688.1:c.*476C>T | ENSP00000510155.1:n.*476C>T | |
| ENST00000690646.1:c.5239C>T | ENSP00000510383.1:p.Leu1747Phe | |
| ENST00000690814.1:c.*2589C>T | ENSP00000508792.1:n.*2589C>T | |
| ENST00000691504.1:n.6269C>T | ||
| ENST00000691551.1:c.1582C>T | ||
| ENST00000692155.1:c.5256C>T | ENSP00000510290.1:n.5256C>T | |
| ENST00000692746.1:n.5083C>T | ||
| ENST00000693386.1:c.5258C>T | ENSP00000510003.1:n.5258C>T | |
| ENST00000693433.1:n.9169C>T | ||
| ENST00000693714.1:n.5360C>T | ||
| ENST00000693728.1:c.5317C>T | ENSP00000510580.1:p.Leu1773Phe | |
| ENST00000349780.9:c.5413C>T MANE Select | ENSP00000343818.4:p.Leu1805Phe | |
| ENST00000349780.8:c.5413C>T | ENSP00000343818.4:p.Leu1805Phe | |
| ENST00000360190.8:c.5176C>T | ENSP00000353317.4:p.Leu1726Phe | |
| ENST00000360822.7:c.4723C>T | ENSP00000354065.4:p.Leu1575Phe | |
| ENST00000416449.5:c.3595C>T | ENSP00000400395.1:p.Leu1199Phe | |
| ENST00000425647.1:c.2443C>T | ENSP00000409941.1:p.Leu815Phe | |
| ENST00000433194.6:n.509C>T | ||
| ENST00000473282.6:c.*4237C>T | ENSP00000419265.1:n.*4237C>T | |
| ENST00000474262.5:n.240C>T | ||
| ENST00000480112.5:c.*3240C>T | ENSP00000418418.1:n.*3240C>T | |
| ENST00000480467.5:n.625C>T | ||
| ENST00000484546.1:n.963C>T | ||
| NM_001011649.2:c.5176C>T | NP_001011649.1:p.Leu1726Phe | |
| NM_001272039.1:c.4723C>T | NP_001258968.1:p.Leu1575Phe | |
| NM_018249.5:c.5413C>T | NP_060719.4:p.Leu1805Phe | |
| NR_073554.1:n.5680C>T | ||
| NR_073555.1:n.5603C>T | ||
| NR_073556.1:n.5812C>T | ||
| NR_073557.1:n.5685C>T | ||
| NR_073558.1:n.5682C>T | ||
| XM_006717182.1:c.5317C>T | XP_006717245.1:p.Leu1773Phe | |
| XM_006717185.1:c.4726C>T | XP_006717248.1:p.Leu1576Phe | |
| XM_011518860.1:c.5410C>T | XP_011517162.1:p.Leu1804Phe | |
| XM_011518861.1:c.5410C>T | XP_011517163.1:p.Leu1804Phe | |
| XM_017014921.1:c.5314C>T | XP_016870410.1:p.Leu1772Phe | |
| XM_017014922.1:c.4579C>T | XP_016870411.1:p.Leu1527Phe | |
| XM_017014923.1:c.4489C>T | XP_016870412.1:p.Leu1497Phe | |
| XM_017014924.1:c.2971C>T | XP_016870413.1:p.Leu991Phe | |
| NM_018249.6:c.5413C>T MANE Select | NP_060719.4:p.Leu1805Phe | |
| NM_001011649.3:c.5176C>T | NP_001011649.1:p.Leu1726Phe | |
| NR_073554.2:n.5677C>T | ||
| NR_073555.2:n.5600C>T | ||
| NR_073556.2:n.5809C>T | ||
| NR_073557.2:n.5682C>T | ||
| NR_073558.2:n.5679C>T | ||
| NM_001272039.2:c.4723C>T | NP_001258968.1:p.Leu1575Phe |