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Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.73600406A= , CM000668.2:g.73600406A=
GRCh38
NC_000006.11:g.74310129A= , CM000668.1:g.74310129A=
GRCh37
NC_000006.10:g.74366850A=
NCBI36
NG_008272.1:g.58609T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000355773.6:c.1295T=
MANE Select
ENSP00000348019.5:p.Phe432=
ENST00000355773.5:c.1295T=
ENSP00000348019.5:p.Phe432=
NM_012434.4:c.1295T=
NP_036566.1:p.Phe432=
XM_005248710.2:c.1244T=
XP_005248767.1:p.Phe415=
XM_005248711.1:c.1097T=
XP_005248768.1:p.Phe366=
XM_011535750.1:c.1147T=
XP_011534052.1:p.Leu383=
NM_012434.5:c.1295T=
MANE Select
NP_036566.1:p.Phe432=
NM_001382629.1:c.1064T=
NP_001369558.1:p.Phe355=
NM_001382630.1:c.1260-5192T=
NP_001369559.1:n.1260-5192T=
NM_001382631.1:c.1316T=
NP_001369560.1:p.Phe439=
NM_001382632.1:c.1208T=
NP_001369561.1:p.Phe403=
NM_001382633.1:c.1295T=
NP_001369562.1:p.Phe432=
NM_001382634.1:c.1136T=
NP_001369563.1:p.Phe379=
NM_001382635.1:c.1292T=
NP_001369564.1:p.Phe431=
NM_001382636.1:c.977T=
NP_001369565.1:p.Phe326=