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Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.73600383C= , CM000668.2:g.73600383C=
GRCh38
NC_000006.11:g.74310106C= , CM000668.1:g.74310106C=
GRCh37
NC_000006.10:g.74366827C=
NCBI36
NG_008272.1:g.58632G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000355773.6:c.1318G=
MANE Select
ENSP00000348019.5:p.Gly440=
ENST00000355773.5:c.1318G=
ENSP00000348019.5:p.Gly440=
NM_012434.4:c.1318G=
NP_036566.1:p.Gly440=
XM_005248710.2:c.1267G=
XP_005248767.1:p.Gly423=
XM_005248711.1:c.1120G=
XP_005248768.1:p.Gly374=
XM_011535750.1:c.1170G=
XP_011534052.1:p.Leu390=
NM_012434.5:c.1318G=
MANE Select
NP_036566.1:p.Gly440=
NM_001382629.1:c.1087G=
NP_001369558.1:p.Gly363=
NM_001382630.1:c.1260-5169G=
NP_001369559.1:n.1260-5169G=
NM_001382631.1:c.1339G=
NP_001369560.1:p.Gly447=
NM_001382632.1:c.1231G=
NP_001369561.1:p.Gly411=
NM_001382633.1:c.1318G=
NP_001369562.1:p.Gly440=
NM_001382634.1:c.1159G=
NP_001369563.1:p.Gly387=
NM_001382635.1:c.1315G=
NP_001369564.1:p.Gly439=
NM_001382636.1:c.1000G=
NP_001369565.1:p.Gly334=