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Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.69171846T= , CM000672.2:g.69171846T=
GRCh38
NC_000010.10:g.70931602T= , CM000672.1:g.70931602T=
GRCh37
NC_000010.9:g.70601608T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000263559.11:c.*577T=
MANE Select
ENSP00000263559.6:n.*577T=
ENST00000263559.10:c.*577T=
ENSP00000263559.6:n.*577T=
ENST00000373382.5:c.*577T=
ENSP00000362480.1:n.*577T=
ENST00000395098.5:c.*662T=
ENSP00000378532.1:n.*662T=
NM_001035260.1:c.*662T=
NP_001030337.1:n.*662T=
NM_004896.3:c.*577T=
NP_004887.2:n.*577T=
XM_011540378.1:c.*577T=
XP_011538680.1:n.*577T=
NM_001035260.2:c.*662T=
NP_001030337.1:n.*662T=
NM_001318944.1:c.*577T=
NP_001305873.1:n.*577T=
NM_001318945.1:c.*577T=
NP_001305874.1:n.*577T=
NM_001318946.1:c.*577T=
NP_001305875.1:n.*577T=
NM_004896.4:c.*577T=
NP_004887.2:n.*577T=
NM_004896.5:c.*577T=
MANE Select
NP_004887.2:n.*577T=
NM_001318944.2:c.*577T=
NP_001305873.1:n.*577T=
NM_001318945.2:c.*577T=
NP_001305874.1:n.*577T=
NM_001318946.2:c.*577T=
NP_001305875.1:n.*577T=
NM_001035260.3:c.*662T=
NP_001030337.1:n.*662T=