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Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.70757998C= , CM000672.2:g.70757998C=
GRCh38
NC_000010.10:g.72517754C= , CM000672.1:g.72517754C=
GRCh37
NC_000010.9:g.72187760C=
NCBI36
NG_042147.1:g.90196C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000373207.2:c.2974C=
MANE Select
ENSP00000362303.1:p.Gln992=
ENST00000373207.1:c.2974C=
ENSP00000362303.1:p.Gln992=
ENST00000373208.5:c.2983C=
ENSP00000362304.1:p.Gln995=
NM_080722.3:c.2974C=
NP_542453.2:p.Gln992=
NM_139155.2:c.2983C=
NP_631894.2:p.Gln995=
XM_011539300.1:c.2473C=
XP_011537602.1:p.Gln825=
XM_011539301.1:c.2047C=
XP_011537603.1:p.Gln683=
XM_011539302.1:c.2047C=
XP_011537604.1:p.Gln683=
XM_011539308.1:c.*53C=
XP_011537610.1:n.*53C=
XM_011539309.1:c.1543C=
XP_011537611.1:p.Gln515=
NM_080722.4:c.2974C=
MANE Select
NP_542453.2:p.Gln992=
NM_139155.3:c.2983C=
NP_631894.2:p.Gln995=
XM_011539300.2:c.2473C=
XP_011537602.1:p.Gln825=
XM_011539301.2:c.2047C=
XP_011537603.1:p.Gln683=
XM_011539302.2:c.2047C=
XP_011537604.1:p.Gln683=
XM_011539308.2:c.*53C=
XP_011537610.1:n.*53C=