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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.91022255C= , CM000677.2:g.91022255C=
GRCh38
NC_000015.9:g.91565485C= , CM000677.1:g.91565485C=
GRCh37
NC_000015.8:g.89366489C=
NCBI36
NG_012162.1:g.5349G= , LRG_884:g.5349G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000333371.8:c.-6G=
MANE Select
ENSP00000327650.4:n.-6G=
ENST00000643536.1:c.-6G=
ENSP00000494429.1:n.-6G=
ENST00000647331.1:c.-6G=
ENSP00000493953.1:n.-6G=
ENST00000333371.7:c.-6G=
ENSP00000327650.3:n.-6G=
ENST00000535906.1:c.-6G=
ENSP00000444053.1:n.-6G=
ENST00000556096.6:n.349G=
ENST00000557358.1:n.342G=
ENST00000574755.5:c.-6G=
ENSP00000460413.1:n.-6G=
NM_001289148.1:c.-6G=
NP_001276077.1:n.-6G=
NM_001289149.1:c.-217G=
NP_001276078.1:n.-217G=
NM_018668.4:c.-6G= , LRG_884t1:c.-6G=
NP_061138.3:n.-6G=
XM_005254884.2:c.-6G=
XP_005254941.1:n.-6G=
XM_005254887.1:c.-136G=
XP_005254944.1:n.-136G=
XM_005254888.2:c.-6G=
XP_005254945.1:n.-6G=
XM_011521448.1:c.-319G=
XP_011519750.1:n.-319G=
XM_017022075.2:c.-367G=
XP_016877564.1:n.-367G=
XM_017022076.1:c.-224G=
XP_016877565.1:n.-224G=
XR_001751213.2:n.331G=
NM_018668.5:c.-6G=
MANE Select
NP_061138.3:n.-6G=