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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.91757542G= , CM000671.2:g.91757542G=
GRCh38
NC_000009.11:g.94519824G= , CM000671.1:g.94519824G=
GRCh37
NC_000009.10:g.93559645G=
NCBI36
NG_008089.1:g.197621C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375708.4:c.193C=
MANE Select
ENSP00000364860.3:p.Leu65=
ENST00000375708.3:c.193C=
ENSP00000364860.3:p.Leu65=
ENST00000375715.5:c.-228C=
ENSP00000364867.1:n.-228C=
ENST00000495386.5:n.456C=
ENST00000546883.1:n.395C=
ENST00000548585.2:n.59C=
ENST00000550066.5:n.661C=
NM_004560.3:c.193C=
NP_004551.2:p.Leu65=
XM_005252008.3:c.-228C=
XP_005252065.1:n.-228C=
XM_006717121.2:c.-228C=
XP_006717184.1:n.-228C=
XM_011518721.1:c.-228C=
XP_011517023.1:n.-228C=
NM_001318204.1:c.193C=
NP_001305133.1:p.Leu65=
XM_005252008.4:c.-228C=
XP_005252065.1:n.-228C=
XM_006717121.3:c.-228C=
XP_006717184.1:n.-228C=
XM_017014762.1:c.184C=
XP_016870251.1:p.Leu62=
XM_017014763.1:c.-228C=
XP_016870252.1:n.-228C=
XR_001746315.1:n.436C=
NM_004560.4:c.193C=
MANE Select
NP_004551.2:p.Leu65=
NM_001318204.2:c.193C=
NP_001305133.1:p.Leu65=