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Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.51784421C>T , CM000682.2:g.51784421C>T
GRCh38
NC_000020.10:g.50400960C>T , CM000682.1:g.50400960C>T
GRCh37
NC_000020.9:g.49834367C>T
NCBI36
NG_008000.1:g.23089G>A , LRG_675:g.23089G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000217086.9:c.3006G>A
MANE Select
ENSP00000217086.4:p.Leu1002=
ENST00000217086.8:c.3006G>A
ENSP00000217086.4:p.Leu1002=
ENST00000371539.7:c.675G>A
ENSP00000360594.3:p.Leu225=
ENST00000395997.3:c.1695G>A
ENSP00000379319.3:p.Leu565=
NM_020436.3:c.3006G>A , LRG_675t1:c.3006G>A
NP_065169.1:p.Leu1002=
XM_005260467.2:c.2700G>A
XP_005260524.1:p.Leu900=
XM_006723834.2:c.2700G>A
XP_006723897.1:p.Leu900=
XM_011528919.1:c.2880G>A
XP_011527221.1:p.Leu960=
XM_011528920.1:c.2700G>A
XP_011527222.1:p.Leu900=
XM_011528921.1:c.2700G>A
XP_011527223.1:p.Leu900=
XM_011528922.1:c.2700G>A
XP_011527224.1:p.Leu900=
XM_011528923.1:c.1695G>A
XP_011527225.1:p.Leu565=
NM_001318031.1:c.1695G>A
NP_001304960.1:p.Leu565=
NM_020436.4:c.3006G>A
NP_065169.1:p.Leu1002=
XM_005260467.4:c.2700G>A
XP_005260524.1:p.Leu900=
XM_011528921.2:c.2700G>A
XP_011527223.1:p.Leu900=
XM_011528922.2:c.2700G>A
XP_011527224.1:p.Leu900=
NM_020436.5:c.3006G>A
MANE Select
NP_065169.1:p.Leu1002=
NM_001318031.2:c.1695G>A
NP_001304960.1:p.Leu565=