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Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.6534536C= , CM000674.2:g.6534536C=
GRCh38
NC_000012.11:g.6643702C= , CM000674.1:g.6643702C=
GRCh37
NC_000012.10:g.6513963C=
NCBI36
NG_007073.2:g.5046C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000229239.10:c.-57C=
MANE Select
ENSP00000229239.5:n.-57C=
ENST00000229239.9:c.-57C=
ENSP00000229239.5:n.-57C=
ENST00000396856.5:c.-309C=
ENSP00000380065.1:n.-309C=
ENST00000396861.5:c.-149C=
ENSP00000380070.1:n.-149C=
ENST00000492719.5:n.4C=
ENST00000496049.1:n.25C=
NM_001289745.1:c.-149C=
NP_001276674.1:n.-149C=
NM_002046.5:c.-57C=
NP_002037.2:n.-57C=
NM_001289745.2:c.-149C=
NP_001276674.1:n.-149C=
NM_001357943.1:c.-57C=
NP_001344872.1:n.-57C=
NM_002046.6:c.-57C=
NP_002037.2:n.-57C=
NR_152150.1:n.20C=
NM_002046.7:c.-57C=
MANE Select
NP_002037.2:n.-57C=
NM_001289745.3:c.-149C=
NP_001276674.1:n.-149C=
NM_001289746.2:c.-297C=
NP_001276675.1:n.-297C=
NM_001357943.2:c.-57C=
NP_001344872.1:n.-57C=
NR_152150.2:n.20C=