Linked Data
ClinVar Variation Id:
4200
ClinVar RCV Id:
RCV000004420
RCV000034153
RCV000033147
RCV000439841
RCV000414821
RCV000779562
RCV000789780
RCV002362562
RCV002496254
dbSNP Id:
rs104894080
ExAC:
8:75276240 C / T
gnomAD v2:
8-75276240-C-T
gnomAD v3:
8-74364005-C-T
gnomAD v4:
8-74364005-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.74364005C>T , CM000670.2:g.74364005C>T | GRCh38 |
| NC_000008.10:g.75276240C>T , CM000670.1:g.75276240C>T | GRCh37 |
| NC_000008.9:g.75438795C>T | NCBI36 |
| NG_008787.2:g.47876C>T | |
| NG_008787.3:g.47876C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220822.12:c.715C>T MANE Select | ENSP00000220822.7:p.Leu239Phe | |
| ENST00000434412.3:c.583C>T | ENSP00000417006.3:p.Leu195Phe | |
| ENST00000520797.6:n.826C>T | ||
| ENST00000521096.6:n.571C>T | ||
| ENST00000522568.2:c.*387C>T | ENSP00000430136.1:n.*387C>T | |
| ENST00000523640.2:c.165+12684C>T | ENSP00000502017.1:n.165+12684C>T | |
| ENST00000524195.2:c.280+952C>T | ENSP00000502308.1:n.280+952C>T | |
| ENST00000674612.1:c.388C>T | ENSP00000501864.1:p.Leu130Phe | |
| ENST00000674710.1:c.694+952C>T | ENSP00000502762.1:n.694+952C>T | |
| ENST00000674754.1:c.*2278C>T | ENSP00000502063.1:n.*2278C>T | |
| ENST00000674756.1:c.*366+952C>T | ENSP00000501860.1:n.*366+952C>T | |
| ENST00000674806.1:c.388C>T | ENSP00000502637.1:p.Leu130Phe | |
| ENST00000674865.1:c.511C>T | ENSP00000502437.1:p.Leu171Phe | |
| ENST00000674926.1:c.*1347C>T | ENSP00000501799.1:n.*1347C>T | |
| ENST00000674934.1:c.*403C>T | ENSP00000502187.1:n.*403C>T | |
| ENST00000674944.1:c.*1318C>T | ENSP00000501858.1:n.*1318C>T | |
| ENST00000674946.1:c.694+952C>T | ENSP00000501569.1:n.694+952C>T | |
| ENST00000674973.1:c.409C>T | ENSP00000502447.1:p.Leu137Phe | |
| ENST00000675007.1:c.*453C>T | ENSP00000502119.1:n.*453C>T | |
| ENST00000675060.1:c.*380C>T | ENSP00000501616.1:n.*380C>T | |
| ENST00000675165.1:c.712C>T | ENSP00000502612.1:p.Leu238Phe | |
| ENST00000675220.1:c.388C>T | ENSP00000502588.1:p.Leu130Phe | |
| ENST00000675265.1:c.*465C>T | ENSP00000501848.1:n.*465C>T | |
| ENST00000675336.1:c.*201C>T | ENSP00000502120.1:n.*201C>T | |
| ENST00000675376.1:c.388C>T | ENSP00000502838.1:p.Leu130Phe | |
| ENST00000675463.1:c.793C>T | ENSP00000502327.1:p.Leu265Phe | |
| ENST00000675472.1:c.*201C>T | ENSP00000501946.1:n.*201C>T | |
| ENST00000675474.1:n.300C>T | ||
| ENST00000675560.1:c.*366+952C>T | ENSP00000502118.1:n.*366+952C>T | |
| ENST00000675625.1:c.*387C>T | ENSP00000501626.1:n.*387C>T | |
| ENST00000675633.1:c.*122C>T | ENSP00000501785.1:n.*122C>T | |
| ENST00000675661.1:c.*475C>T | ENSP00000501958.1:n.*475C>T | |
| ENST00000675706.1:n.2673C>T | ||
| ENST00000675821.1:c.388C>T | ENSP00000502198.1:p.Leu130Phe | |
| ENST00000675832.1:c.*387C>T | ENSP00000502041.1:n.*387C>T | |
| ENST00000675928.1:c.541C>T | ENSP00000501568.1:p.Leu181Phe | |
| ENST00000675944.1:c.511C>T | ENSP00000502673.1:p.Leu171Phe | |
| ENST00000675999.1:c.694+952C>T | ENSP00000502572.1:n.694+952C>T | |
| ENST00000676049.1:c.*617C>T | ENSP00000501912.1:n.*617C>T | |
| ENST00000676112.1:c.781C>T | ENSP00000502295.1:p.Leu261Phe | |
| ENST00000676143.1:c.388C>T | ENSP00000502828.1:p.Leu130Phe | |
| ENST00000676207.1:c.694+952C>T | ENSP00000502638.1:n.694+952C>T | |
| ENST00000676377.1:c.388C>T | ENSP00000502756.1:p.Leu130Phe | |
| ENST00000676415.1:c.*21C>T | ENSP00000502665.1:n.*21C>T | |
| ENST00000676443.1:c.667C>T | ENSP00000501769.1:p.Leu223Phe | |
| ENST00000220822.11:c.715C>T | ENSP00000220822.7:p.Leu239Phe | |
| ENST00000434412.2:c.511C>T | ENSP00000417006.2:p.Leu171Phe | |
| ENST00000520797.5:n.480C>T | ||
| ENST00000521096.5:n.521C>T | ||
| ENST00000522568.1:c.*387C>T | ENSP00000430136.1:n.*387C>T | |
| ENST00000524195.1:n.103+952C>T | ||
| ENST00000524366.5:n.559C>T | ||
| NM_001040875.2:c.511C>T | NP_001035808.1:p.Leu171Phe | |
| NM_018972.2:c.715C>T | NP_061845.2:p.Leu239Phe | |
| NR_046346.1:n.649C>T | ||
| XM_011517551.1:c.1009C>T | XP_011515853.1:p.Leu337Phe | |
| XM_011517552.1:c.388C>T | XP_011515854.1:p.Leu130Phe | |
| NM_001040875.3:c.511C>T | NP_001035808.1:p.Leu171Phe | |
| NM_001362929.1:c.388C>T | NP_001349858.1:p.Leu130Phe | |
| NM_001362930.1:c.541C>T | NP_001349859.1:p.Leu181Phe | |
| NM_001362931.1:c.694+952C>T | NP_001349860.1:n.694+952C>T | |
| NM_001362932.1:c.388C>T | NP_001349861.1:p.Leu130Phe | |
| NM_018972.3:c.715C>T | NP_061845.2:p.Leu239Phe | |
| NM_001362931.2:c.694+952C>T | NP_001349860.1:n.694+952C>T | |
| NM_018972.4:c.715C>T MANE Select | NP_061845.2:p.Leu239Phe | |
| NM_001040875.4:c.511C>T | NP_001035808.1:p.Leu171Phe | |
| NM_001362929.2:c.388C>T | NP_001349858.1:p.Leu130Phe | |
| NM_001362930.2:c.541C>T | NP_001349859.1:p.Leu181Phe | |
| NM_001362932.2:c.388C>T | NP_001349861.1:p.Leu130Phe |