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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.97768114T= , CM000665.2:g.97768114T=
GRCh38
NC_000003.11:g.97486958T= , CM000665.1:g.97486958T=
GRCh37
NC_000003.10:g.98969648T=
NCBI36
NG_008119.1:g.8364T=
NG_008119.2:g.8364T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000462412.3:c.7T=
ENSP00000418740.2:p.Leu3=
ENST00000631834.2:c.7T=
ENSP00000488530.2:p.Leu3=
ENST00000463745.6:c.7T=
MANE Select
ENSP00000419619.1:p.Leu3=
ENST00000335979.6:c.7T=
ENSP00000337722.2:p.Leu3=
ENST00000394206.5:c.7T=
ENSP00000377756.1:p.Leu3=
ENST00000462412.2:c.7T=
ENSP00000418740.1:p.Leu3=
ENST00000463745.5:c.7T=
ENSP00000419619.1:p.Leu3=
ENST00000493990.5:c.7T=
ENSP00000418057.1:p.Leu3=
ENST00000496713.1:n.245T=
NM_001278293.1:c.7T=
NP_001265222.1:p.Leu3=
NM_032146.4:c.7T=
NP_115522.1:p.Leu3=
NM_177976.2:c.7T=
NP_816931.1:p.Leu3=
NR_103511.1:n.590T=
XM_006713779.2:c.7T=
XP_006713842.1:p.Leu3=
XM_006713783.2:c.7T=
XP_006713846.1:p.Leu3=
XM_011513230.1:c.7T=
XP_011511532.1:p.Leu3=
XR_924184.1:n.479T=
XR_924185.1:n.585T=
XR_924186.1:n.632T=
XR_924187.1:n.479T=
XR_924188.1:n.533T=
XR_924189.1:n.479T=
NM_001278293.2:c.7T=
NP_001265222.1:p.Leu3=
NM_001323513.1:c.7T=
NP_001310442.1:p.Leu3=
NM_001323514.1:c.7T=
NP_001310443.1:p.Leu3=
NM_032146.5:c.7T=
NP_115522.1:p.Leu3=
NM_177976.3:c.7T=
NP_816931.1:p.Leu3=
NR_136595.1:n.590T=
NR_136597.1:n.491T=
NR_136598.1:n.491T=
NR_136600.1:n.491T=
NR_136601.1:n.491T=
NR_136602.1:n.491T=
XM_017007311.2:c.7T=
XP_016862800.1:p.Leu3=
XM_017007312.2:c.7T=
XP_016862801.1:p.Leu3=
XR_001740319.2:n.2431T=
XR_001740321.2:n.2431T=
XR_002959599.1:n.2490T=
XR_924184.3:n.2431T=
XR_924185.3:n.2530T=
XR_924186.3:n.2589T=
XR_924187.3:n.2431T=
XR_924188.3:n.2490T=
XR_924189.3:n.2431T=
NM_001278293.3:c.7T=
MANE Select
NP_001265222.1:p.Leu3=
NM_001323513.2:c.7T=
NP_001310442.1:p.Leu3=
NM_001323514.2:c.7T=
NP_001310443.1:p.Leu3=
NR_103511.2:n.353T=
NR_136595.2:n.353T=
NR_136597.2:n.254T=
NR_136598.2:n.254T=
NR_136600.2:n.254T=
NR_136601.2:n.254T=
NR_136602.2:n.254T=
NR_103511.3:n.353T=
NR_136600.3:n.254T=
NR_136601.3:n.254T=
NR_136602.3:n.254T=