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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.15424422C= , CM000664.2:g.15424422C=
GRCh38
NC_000002.11:g.15564546C= , CM000664.1:g.15564546C=
GRCh37
NC_000002.10:g.15481997C=
NCBI36
NG_032964.1:g.141927G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000700061.1:c.567G=
ENST00000700062.1:c.567G=
ENST00000700065.1:n.2483G=
ENST00000700066.1:c.1987G=
ENSP00000514780.1:p.Ala663=
ENST00000281513.10:c.2470G=
MANE Select
ENSP00000281513.5:p.Ala824=
ENST00000281513.9:c.2470G=
ENSP00000281513.5:p.Ala824=
NM_015909.3:c.2470G=
NP_056993.2:p.Ala824=
NR_052013.2:n.2514G=
XM_011510357.1:c.2341G=
XP_011508659.1:p.Ala781=
XM_011510358.1:c.2470G=
XP_011508660.1:p.Ala824=
XM_011510359.1:c.1831G=
XP_011508661.1:p.Ala611=
XM_011510360.1:c.271G=
XP_011508662.1:p.Ala91=
XM_011510361.1:c.262G=
XP_011508663.1:p.Ala88=
XM_011510357.2:c.2341G=
XP_011508659.1:p.Ala781=
XM_011510358.2:c.2470G=
XP_011508660.1:p.Ala824=
XM_011510360.2:c.271G=
XP_011508662.1:p.Ala91=
XM_011510361.2:c.262G=
XP_011508663.1:p.Ala88=
XM_017004317.1:c.2470G=
XP_016859806.1:p.Ala824=
XM_024452961.1:c.1831G=
XP_024308729.1:p.Ala611=
NM_015909.4:c.2470G=
MANE Select
NP_056993.2:p.Ala824=
NR_052013.3:n.2500G=