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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.15424445T= , CM000664.2:g.15424445T=
GRCh38
NC_000002.11:g.15564569T= , CM000664.1:g.15564569T=
GRCh37
NC_000002.10:g.15482020T=
NCBI36
NG_032964.1:g.141904A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000700061.1:c.544A=
ENST00000700062.1:c.544A=
ENST00000700065.1:n.2460A=
ENST00000700066.1:c.1964A=
ENSP00000514780.1:p.Gln655=
ENST00000281513.10:c.2447A=
MANE Select
ENSP00000281513.5:p.Gln816=
ENST00000281513.9:c.2447A=
ENSP00000281513.5:p.Gln816=
NM_015909.3:c.2447A=
NP_056993.2:p.Gln816=
NR_052013.2:n.2491A=
XM_011510357.1:c.2318A=
XP_011508659.1:p.Gln773=
XM_011510358.1:c.2447A=
XP_011508660.1:p.Gln816=
XM_011510359.1:c.1808A=
XP_011508661.1:p.Gln603=
XM_011510360.1:c.248A=
XP_011508662.1:p.Gln83=
XM_011510361.1:c.239A=
XP_011508663.1:p.Gln80=
XM_011510357.2:c.2318A=
XP_011508659.1:p.Gln773=
XM_011510358.2:c.2447A=
XP_011508660.1:p.Gln816=
XM_011510360.2:c.248A=
XP_011508662.1:p.Gln83=
XM_011510361.2:c.239A=
XP_011508663.1:p.Gln80=
XM_017004317.1:c.2447A=
XP_016859806.1:p.Gln816=
XM_024452961.1:c.1808A=
XP_024308729.1:p.Gln603=
NM_015909.4:c.2447A=
MANE Select
NP_056993.2:p.Gln816=
NR_052013.3:n.2477A=