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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.168922936G= , CM000664.2:g.168922936G=
GRCh38
NC_000002.11:g.169779446G= , CM000664.1:g.169779446G=
GRCh37
NC_000002.10:g.169487692G=
NCBI36
NG_007374.1:g.113388C=
NG_007374.2:g.113461C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000648875.1:c.226+1721C=
ENST00000650372.1:c.*686C=
MANE Select
ENSP00000497931.1:n.*686C=
XM_006712817.2:c.*686C=
XP_006712880.1:n.*686C=
XM_011512077.1:c.*686C=
XP_011510379.1:n.*686C=
XM_011512078.1:c.*640C=
XP_011510380.1:n.*640C=
XM_011512079.1:c.*686C=
XP_011510381.1:n.*686C=
XM_011512081.1:c.*686C=
XP_011510383.1:n.*686C=
NM_003742.4:c.*686C=
MANE Select
NP_003733.2:n.*686C=
XM_006712817.3:c.*686C=
XP_006712880.1:n.*686C=
XM_011512077.2:c.*686C=
XP_011510379.1:n.*686C=
XM_011512078.2:c.*640C=
XP_011510380.1:n.*640C=
XM_011512081.2:c.*686C=
XP_011510383.1:n.*686C=
XM_017005165.1:c.3867+1721C=
XP_016860654.1:n.3867+1721C=
XM_017005166.1:c.*686C=
XP_016860655.1:n.*686C=
XM_017005167.1:c.*686C=
XP_016860656.1:n.*686C=