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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.36993422G= , CM000665.2:g.36993422G=
GRCh38
NC_000003.11:g.37034913G= , CM000665.1:g.37034913G=
GRCh37
NC_000003.10:g.37009917G=
NCBI36
NG_007109.2:g.5073G= , LRG_216:g.5073G=
NG_008418.1:g.4883C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000413740.2:c.-126G=
ENSP00000416476.2:n.-126G=
ENST00000673673.2:c.-126G=
ENSP00000500979.2:n.-126G=
ENST00000231790.6:c.-126G=
ENSP00000231790.2:n.-126G=
ENST00000536378.5:c.-758G=
ENSP00000444286.2:n.-758G=
NM_000249.3:c.-126G= , LRG_216t1:c.-126G=
NP_000240.1:n.-126G=
NM_001258271.1:c.-126G=
NP_001245200.1:n.-126G=
NM_001258273.1:c.-758G=
NP_001245202.1:n.-758G=
NM_001167617.2:c.-642G=
NP_001161089.1:n.-642G=
NM_001167618.2:c.-1071G=
NP_001161090.1:n.-1071G=
NM_001167619.2:c.-984G=
NP_001161091.1:n.-984G=
NM_001258274.2:c.-1221G=
NP_001245203.1:n.-1221G=
NM_001354615.1:c.-752G=
NP_001341544.1:n.-752G=
NM_001354616.1:c.-752G=
NP_001341545.1:n.-752G=
NM_001354617.1:c.-844G=
NP_001341546.1:n.-844G=
NM_001354618.1:c.-1076G=
NP_001341547.1:n.-1076G=
NM_001354619.1:c.-1200G=
NP_001341548.1:n.-1200G=
NM_001354620.1:c.-410G=
NP_001341549.1:n.-410G=
NM_001354621.1:c.-1169G=
NP_001341550.1:n.-1169G=
NM_001354622.1:c.-1282G=
NP_001341551.1:n.-1282G=
NM_001354623.1:c.-1191G=
NP_001341552.1:n.-1191G=
NM_001354624.1:c.-952G=
NP_001341553.1:n.-952G=
NM_001354625.1:c.-850G=
NP_001341554.1:n.-850G=
NM_001354626.1:c.-947G=
NP_001341555.1:n.-947G=
NM_001354627.1:c.-1179G=
NP_001341556.1:n.-1179G=
NM_001354628.1:c.-126G=
NP_001341557.1:n.-126G=
NM_001354629.1:c.-126G=
NP_001341558.1:n.-126G=
NM_001354630.1:c.-126G=
NP_001341559.1:n.-126G=