Linked Data
ClinVar Variation Id:
217708
ClinVar RCV Id:
RCV000201665
dbSNP Id:
rs863225225
gnomAD v4:
8-93797184-C-A
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93797184C>A , CM000670.2:g.93797184C>A | GRCh38 |
| NC_000008.10:g.94809412C>A , CM000670.1:g.94809412C>A | GRCh37 |
| NC_000008.9:g.94878588C>A | NCBI36 |
| NG_009190.1:g.47341C>A , LRG_688:g.47341C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.1911C>A | ENSP00000314488.4:p.Phe637Leu | |
| ENST00000409623.8:c.1866C>A | ENSP00000386966.4:p.Phe622Leu | |
| ENST00000452276.6:c.1911C>A | ENSP00000388671.2:p.Phe637Leu | |
| ENST00000453906.6:c.1029C>A | ENSP00000403035.2:p.Phe343Leu | |
| ENST00000518896.2:c.202C>A | ENSP00000507992.1:n.202C>A | |
| ENST00000520680.2:c.2034C>A | ENSP00000428785.2:p.Phe678Leu | |
| ENST00000521517.6:c.1812C>A | ENSP00000430740.2:p.Phe604Leu | |
| ENST00000681998.1:c.1732C>A | ENSP00000506773.1:n.1732C>A | |
| ENST00000682036.1:c.1152C>A | ENSP00000508390.1:p.Phe384Leu | |
| ENST00000682577.1:c.1684C>A | ENSP00000506963.1:n.1684C>A | |
| ENST00000682624.1:c.*1485C>A | ENSP00000508343.1:n.*1485C>A | |
| ENST00000682700.1:c.1911C>A | ENSP00000507627.1:p.Phe637Leu | |
| ENST00000682744.1:n.1449C>A | ||
| ENST00000682804.1:n.1734C>A | ||
| ENST00000682837.1:c.1400C>A | ENSP00000507920.1:n.1400C>A | |
| ENST00000682935.1:n.3961C>A | ||
| ENST00000682984.1:c.1572C>A | ENSP00000507209.1:p.Phe524Leu | |
| ENST00000683078.1:c.1666C>A | ENSP00000506796.1:n.1666C>A | |
| ENST00000683223.1:c.1643C>A | ENSP00000507685.1:n.1643C>A | |
| ENST00000683238.1:n.3135C>A | ||
| ENST00000683249.1:n.3508C>A | ||
| ENST00000683336.1:c.1732C>A | ENSP00000507695.1:n.1732C>A | |
| ENST00000683362.1:c.1572C>A | ENSP00000506985.1:p.Phe524Leu | |
| ENST00000683850.1:n.1834C>A | ||
| ENST00000683919.1:c.1841C>A | ENSP00000507617.1:n.1841C>A | |
| ENST00000683953.1:c.1822C>A | ENSP00000508375.1:n.1822C>A | |
| ENST00000684023.1:c.1888C>A | ENSP00000507461.1:n.1888C>A | |
| ENST00000684064.1:c.1602C>A | ENSP00000508192.1:p.Phe534Leu | |
| ENST00000684089.1:n.3461C>A | ||
| ENST00000684149.1:c.*1090C>A | ENSP00000507943.1:n.*1090C>A | |
| ENST00000684343.1:c.108C>A | ENSP00000507591.1:p.Phe36Leu | |
| ENST00000684416.1:n.1870C>A | ||
| ENST00000684540.1:c.1841C>A | ENSP00000507987.1:n.1841C>A | |
| ENST00000453321.8:c.1911C>A MANE Select | ENSP00000389998.3:p.Phe637Leu | |
| ENST00000323130.7:c.1881C>A | ENSP00000314488.3:p.Phe627Leu | |
| ENST00000409623.7:c.1668C>A | ENSP00000386966.3:p.Phe556Leu | |
| ENST00000453321.7:c.1911C>A | ENSP00000389998.3:p.Phe637Leu | |
| ENST00000474944.5:n.1049C>A | ||
| ENST00000519845.5:n.643C>A | ||
| ENST00000523230.5:n.446C>A | ||
| NM_001142301.1:c.1668C>A , LRG_688t2:c.1668C>A | NP_001135773.1:p.Phe556Leu | |
| NM_153704.5:c.1911C>A , LRG_688t1:c.1911C>A | NP_714915.3:p.Phe637Leu | |
| NR_024522.1:n.1982C>A | ||
| XM_006716686.2:c.1608C>A | XP_006716749.1:p.Phe536Leu | |
| XM_006716687.2:c.1311C>A | XP_006716750.1:p.Phe437Leu | |
| XM_011517363.1:c.1029C>A | XP_011515665.1:p.Phe343Leu | |
| XR_428387.1:n.1969C>A | ||
| XR_928360.1:n.1969C>A | ||
| XR_928361.1:n.1969C>A | ||
| XR_928362.1:n.1969C>A | ||
| XM_006716686.4:c.1608C>A | XP_006716749.1:p.Phe536Leu | |
| XM_011517363.3:c.1029C>A | XP_011515665.1:p.Phe343Leu | |
| XM_024447326.1:c.1257C>A | XP_024303094.1:p.Phe419Leu | |
| XR_001745619.2:n.1952C>A | ||
| XR_428387.2:n.1952C>A | ||
| XR_928360.3:n.1952C>A | ||
| XR_928362.3:n.1952C>A | ||
| NM_153704.6:c.1911C>A MANE Select | NP_714915.3:p.Phe637Leu | |
| NR_024522.2:n.1932C>A |