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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.91757516A= , CM000671.2:g.91757516A=
GRCh38
NC_000009.11:g.94519798A= , CM000671.1:g.94519798A=
GRCh37
NC_000009.10:g.93559619A=
NCBI36
NG_008089.1:g.197647T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375708.4:c.219T=
MANE Select
ENSP00000364860.3:p.Ile73=
ENST00000375708.3:c.219T=
ENSP00000364860.3:p.Ile73=
ENST00000375715.5:c.-202T=
ENSP00000364867.1:n.-202T=
ENST00000495386.5:n.482T=
ENST00000546883.1:n.421T=
ENST00000548585.2:n.85T=
ENST00000550066.5:n.687T=
NM_004560.3:c.219T=
NP_004551.2:p.Ile73=
XM_005252008.3:c.-202T=
XP_005252065.1:n.-202T=
XM_006717121.2:c.-202T=
XP_006717184.1:n.-202T=
XM_011518721.1:c.-202T=
XP_011517023.1:n.-202T=
NM_001318204.1:c.219T=
NP_001305133.1:p.Ile73=
XM_005252008.4:c.-202T=
XP_005252065.1:n.-202T=
XM_006717121.3:c.-202T=
XP_006717184.1:n.-202T=
XM_017014762.1:c.210T=
XP_016870251.1:p.Ile70=
XM_017014763.1:c.-202T=
XP_016870252.1:n.-202T=
XR_001746315.1:n.462T=
NM_004560.4:c.219T=
MANE Select
NP_004551.2:p.Ile73=
NM_001318204.2:c.219T=
NP_001305133.1:p.Ile73=