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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.87600178G>A , CM000669.2:g.87600178G>A
GRCh38
NC_000007.13:g.87229494G>A , CM000669.1:g.87229494G>A
GRCh37
NC_000007.12:g.87067430G>A
NCBI36
NG_011513.1:g.118071C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000265724.8:c.7C>T
ENSP00000265724.3:p.Leu3Phe
ENST00000622132.5:c.7C>T
MANE Select
ENSP00000478255.1:p.Leu3Phe
ENST00000265724.7:c.7C>T
ENSP00000265724.3:p.Leu3Phe
ENST00000416177.1:c.7C>T
ENSP00000399419.1:p.Leu3Phe
ENST00000543898.5:c.7C>T
ENSP00000444095.1:p.Leu3Phe
ENST00000622132.4:c.7C>T
ENSP00000478255.1:p.Leu3Phe
NM_000927.4:c.7C>T
NP_000918.2:p.Leu3Phe
NM_001348944.1:c.7C>T
NP_001335873.1:p.Leu3Phe
NM_001348945.1:c.217C>T
NP_001335874.1:p.Leu73Phe
NM_001348946.1:c.7C>T
NP_001335875.1:p.Leu3Phe
NM_001348946.2:c.7C>T
MANE Select
NP_001335875.1:p.Leu3Phe
NM_000927.5:c.7C>T
NP_000918.2:p.Leu3Phe
NM_001348944.2:c.7C>T
NP_001335873.1:p.Leu3Phe
NM_001348945.2:c.217C>T
NP_001335874.1:p.Leu73Phe