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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.100048875A= , CM000677.2:g.100048875A=
GRCh38
NC_000015.9:g.100589080A= , CM000677.1:g.100589080A=
GRCh37
NC_000015.8:g.98406603A=
NCBI36
NG_016287.1:g.298104T=
NG_016287.2:g.298104T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000268070.9:c.2573T=
MANE Select
ENSP00000268070.4:p.Leu858=
ENST00000568565.2:c.2654T=
ENSP00000456161.2:p.Leu885=
ENST00000268070.8:c.2573T=
ENSP00000268070.4:p.Leu858=
NM_139057.2:c.2573T=
NP_620688.2:p.Leu858=
XM_005254872.2:c.2654T=
XP_005254929.1:p.Leu885=
XM_011521312.1:c.2723T=
XP_011519614.1:p.Leu908=
NM_139057.3:c.2573T=
NP_620688.2:p.Leu858=
XM_005254872.3:c.2654T=
XP_005254929.1:p.Leu885=
XM_011521312.2:c.2723T=
XP_011519614.1:p.Leu908=
XM_017021973.2:c.2855T=
XP_016877462.1:p.Leu952=
XM_017021974.1:c.2855T=
XP_016877463.1:p.Leu952=
XM_017021975.1:c.2786T=
XP_016877464.1:p.Leu929=
XM_017021976.1:c.2126T=
XP_016877465.1:p.Leu709=
XM_017021978.1:c.1757T=
XP_016877467.1:p.Leu586=
XM_017021979.1:c.1535T=
XP_016877468.1:p.Leu512=
XM_017021980.1:c.1535T=
XP_016877469.1:p.Leu512=
XM_017021982.1:c.1244T=
XP_016877471.1:p.Leu415=
XM_017021983.1:c.1028T=
XP_016877472.1:p.Leu343=
NM_139057.4:c.2573T=
MANE Select
NP_620688.2:p.Leu858=