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Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.12914652A= , CM000686.2:g.12914652A=
GRCh38
NC_000024.9:g.15026564A= , CM000686.1:g.15026564A=
GRCh37
NC_000024.8:g.13535958A=
NCBI36
NG_012831.1:g.15546A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000336079.8:c.759+3A=
MANE Select
ENSP00000336725.3:n.759+3A=
ENST00000336079.7:c.759+3A=
ENSP00000336725.3:n.759+3A=
ENST00000360160.8:c.759+3A=
ENSP00000353284.4:n.759+3A=
ENST00000463199.1:n.277+3A=
ENST00000472510.5:n.325A=
NM_001122665.2:c.759+3A=
NP_001116137.1:n.759+3A=
NM_001302552.1:c.750+3A=
NP_001289481.1:n.750+3A=
NM_004660.4:c.759+3A=
NP_004651.2:n.759+3A=
XM_006724878.1:c.759+3A=
XP_006724941.1:n.759+3A=
XM_011531471.1:c.759+3A=
XP_011529773.1:n.759+3A=
NM_001122665.3:c.759+3A=
NP_001116137.1:n.759+3A=
NM_001302552.2:c.750+3A=
NP_001289481.1:n.750+3A=
NM_001324195.1:c.759+3A=
NP_001311124.1:n.759+3A=
NR_136716.1:n.913A=
NR_136717.1:n.990+3A=
NR_136718.1:n.993A=
NR_136719.1:n.783A=
NR_136720.1:n.913A=
NR_136721.1:n.838+3A=
NR_136722.1:n.905+3A=
NR_136723.1:n.908A=
NR_136724.1:n.828A=
XR_001756014.2:n.863+3A=
NM_004660.5:c.759+3A=
MANE Select
NP_004651.2:n.759+3A=
NM_001302552.3:c.750+3A=
NP_001289481.1:n.750+3A=
NM_001324195.2:c.759+3A=
NP_001311124.1:n.759+3A=
NR_136716.2:n.831A=
NR_136717.2:n.908+3A=
NR_136718.2:n.911A=
NR_136719.2:n.701A=
NR_136720.2:n.831A=
NR_136721.2:n.828+3A=