Linked Data
ClinVar Variation Id:
217729
dbSNP Id:
rs863225238
gnomAD v2:
8-94809684-C-T
gnomAD v4:
8-93797456-C-T
MyVariant Identifiers:
chr8:g.94809684C>T (hg19)
chr8:g.94809684_94809685delinsTT (hg19)
chr8:g.93797456C>T (hg38)
chr8:g.93797456_93797457delinsTT (hg38)
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93797456C>T , CM000670.2:g.93797456C>T | GRCh38 |
| NC_000008.10:g.94809684C>T , CM000670.1:g.94809684C>T | GRCh37 |
| NC_000008.9:g.94878860C>T | NCBI36 |
| NG_009190.1:g.47613C>T , LRG_688:g.47613C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.2086C>T | ENSP00000314488.4:p.Leu696Phe | |
| ENST00000409623.8:c.2041C>T | ENSP00000386966.4:p.Leu681Phe | |
| ENST00000452276.6:c.2086C>T | ENSP00000388671.2:p.Leu696Phe | |
| ENST00000453906.6:c.1204C>T | ENSP00000403035.2:p.Leu402Phe | |
| ENST00000518896.2:c.377C>T | ENSP00000507992.1:n.377C>T | |
| ENST00000520680.2:c.2209C>T | ENSP00000428785.2:p.Leu737Phe | |
| ENST00000521517.6:c.1987C>T | ENSP00000430740.2:p.Leu663Phe | |
| ENST00000681998.1:c.1907C>T | ENSP00000506773.1:n.1907C>T | |
| ENST00000682036.1:c.1327C>T | ENSP00000508390.1:p.Leu443Phe | |
| ENST00000682577.1:c.1859C>T | ENSP00000506963.1:n.1859C>T | |
| ENST00000682624.1:c.*1660C>T | ENSP00000508343.1:n.*1660C>T | |
| ENST00000682700.1:c.2086C>T | ENSP00000507627.1:p.Leu696Phe | |
| ENST00000682744.1:n.1624C>T | ||
| ENST00000682804.1:n.1909C>T | ||
| ENST00000682837.1:c.1575C>T | ENSP00000507920.1:n.1575C>T | |
| ENST00000682935.1:n.4136C>T | ||
| ENST00000682984.1:c.1747C>T | ENSP00000507209.1:p.Leu583Phe | |
| ENST00000683078.1:c.1841C>T | ENSP00000506796.1:n.1841C>T | |
| ENST00000683223.1:c.1818C>T | ENSP00000507685.1:n.1818C>T | |
| ENST00000683238.1:n.3310C>T | ||
| ENST00000683249.1:n.3683C>T | ||
| ENST00000683336.1:c.1907C>T | ENSP00000507695.1:n.1907C>T | |
| ENST00000683362.1:c.1747C>T | ENSP00000506985.1:p.Leu583Phe | |
| ENST00000683850.1:n.2009C>T | ||
| ENST00000683919.1:c.2016C>T | ENSP00000507617.1:n.2016C>T | |
| ENST00000683953.1:c.1997C>T | ENSP00000508375.1:n.1997C>T | |
| ENST00000684023.1:c.2063C>T | ENSP00000507461.1:n.2063C>T | |
| ENST00000684064.1:c.1777C>T | ENSP00000508192.1:p.Leu593Phe | |
| ENST00000684089.1:n.3636C>T | ||
| ENST00000684149.1:c.*1265C>T | ENSP00000507943.1:n.*1265C>T | |
| ENST00000684343.1:c.283C>T | ENSP00000507591.1:p.Leu95Phe | |
| ENST00000684416.1:n.2045C>T | ||
| ENST00000684540.1:c.2016C>T | ENSP00000507987.1:n.2016C>T | |
| ENST00000453321.8:c.2086C>T MANE Select | ENSP00000389998.3:p.Leu696Phe | |
| ENST00000323130.7:c.2056C>T | ENSP00000314488.3:p.Leu686Phe | |
| ENST00000409623.7:c.1843C>T | ENSP00000386966.3:p.Leu615Phe | |
| ENST00000453321.7:c.2086C>T | ENSP00000389998.3:p.Leu696Phe | |
| ENST00000474944.5:n.1224C>T | ||
| ENST00000519845.5:n.818C>T | ||
| NM_001142301.1:c.1843C>T , LRG_688t2:c.1843C>T | NP_001135773.1:p.Leu615Phe | |
| NM_153704.5:c.2086C>T , LRG_688t1:c.2086C>T | NP_714915.3:p.Leu696Phe | |
| NR_024522.1:n.2157C>T | ||
| XM_006716686.2:c.1783C>T | XP_006716749.1:p.Leu595Phe | |
| XM_006716687.2:c.1486C>T | XP_006716750.1:p.Leu496Phe | |
| XM_011517363.1:c.1204C>T | XP_011515665.1:p.Leu402Phe | |
| XR_428387.1:n.2144C>T | ||
| XR_928360.1:n.2144C>T | ||
| XR_928361.1:n.2144C>T | ||
| XR_928362.1:n.2144C>T | ||
| XM_006716686.4:c.1783C>T | XP_006716749.1:p.Leu595Phe | |
| XM_011517363.3:c.1204C>T | XP_011515665.1:p.Leu402Phe | |
| XM_024447326.1:c.1432C>T | XP_024303094.1:p.Leu478Phe | |
| XR_001745619.2:n.2127C>T | ||
| XR_428387.2:n.2127C>T | ||
| XR_928360.3:n.2127C>T | ||
| XR_928362.3:n.2127C>T | ||
| NM_153704.6:c.2086C>T MANE Select | NP_714915.3:p.Leu696Phe | |
| NR_024522.2:n.2107C>T |