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Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.67350246T= , CM000679.2:g.67350246T=
GRCh38
NC_000017.10:g.65346362T= , CM000679.1:g.65346362T=
GRCh37
NC_000017.9:g.62776824T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000356126.8:c.388A=
MANE Select
ENSP00000348442.3:p.Met130=
ENST00000356126.7:c.388A=
ENSP00000348442.3:p.Met130=
ENST00000357146.4:c.328A=
ENSP00000349667.4:p.Met110=
ENST00000584008.5:c.*543A=
ENSP00000462525.1:n.*543A=
ENST00000584289.5:n.437A=
NM_001316341.1:c.211A=
NP_001303270.1:p.Met71=
NM_002816.3:c.388A=
NP_002807.1:p.Met130=
NM_002816.4:c.388A=
NP_002807.1:p.Met130=
NM_174871.2:c.328A=
NP_777360.1:p.Met110=
NM_174871.3:c.328A=
NP_777360.1:p.Met110=
XM_011525048.1:c.211A=
XP_011523350.1:p.Met71=
XM_011525049.1:c.211A=
XP_011523351.1:p.Met71=
XM_011525050.1:c.388A=
XP_011523352.1:p.Met130=
XM_024450842.1:c.475A=
XP_024306610.1:p.Met159=
XM_024450843.1:c.211A=
XP_024306611.1:p.Met71=
XR_001752571.2:n.467A=
NM_002816.5:c.388A=
MANE Select
NP_002807.1:p.Met130=
NM_001316341.2:c.211A=
NP_001303270.1:p.Met71=
NM_174871.4:c.328A=
NP_777360.1:p.Met110=