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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.15424419C= , CM000664.2:g.15424419C=
GRCh38
NC_000002.11:g.15564543C= , CM000664.1:g.15564543C=
GRCh37
NC_000002.10:g.15481994C=
NCBI36
NG_032964.1:g.141930G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000700061.1:c.570G=
ENST00000700062.1:c.570G=
ENST00000700065.1:n.2486G=
ENST00000700066.1:c.1990G=
ENSP00000514780.1:p.Ala664=
ENST00000281513.10:c.2473G=
MANE Select
ENSP00000281513.5:p.Ala825=
ENST00000281513.9:c.2473G=
ENSP00000281513.5:p.Ala825=
NM_015909.3:c.2473G=
NP_056993.2:p.Ala825=
NR_052013.2:n.2517G=
XM_011510357.1:c.2344G=
XP_011508659.1:p.Ala782=
XM_011510358.1:c.2473G=
XP_011508660.1:p.Ala825=
XM_011510359.1:c.1834G=
XP_011508661.1:p.Ala612=
XM_011510360.1:c.274G=
XP_011508662.1:p.Ala92=
XM_011510361.1:c.265G=
XP_011508663.1:p.Ala89=
XM_011510357.2:c.2344G=
XP_011508659.1:p.Ala782=
XM_011510358.2:c.2473G=
XP_011508660.1:p.Ala825=
XM_011510360.2:c.274G=
XP_011508662.1:p.Ala92=
XM_011510361.2:c.265G=
XP_011508663.1:p.Ala89=
XM_017004317.1:c.2473G=
XP_016859806.1:p.Ala825=
XM_024452961.1:c.1834G=
XP_024308729.1:p.Ala612=
NM_015909.4:c.2473G=
MANE Select
NP_056993.2:p.Ala825=
NR_052013.3:n.2503G=