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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.15424394C= , CM000664.2:g.15424394C=
GRCh38
NC_000002.11:g.15564518C= , CM000664.1:g.15564518C=
GRCh37
NC_000002.10:g.15481969C=
NCBI36
NG_032964.1:g.141955G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000700061.1:c.595G=
ENST00000700062.1:c.595G=
ENST00000700065.1:n.2511G=
ENST00000700066.1:c.2015G=
ENSP00000514780.1:p.Arg672=
ENST00000281513.10:c.2498G=
MANE Select
ENSP00000281513.5:p.Arg833=
ENST00000281513.9:c.2498G=
ENSP00000281513.5:p.Arg833=
ENST00000442506.5:c.1G=
NM_015909.3:c.2498G=
NP_056993.2:p.Arg833=
NR_052013.2:n.2542G=
XM_011510357.1:c.2369G=
XP_011508659.1:p.Arg790=
XM_011510358.1:c.2498G=
XP_011508660.1:p.Arg833=
XM_011510359.1:c.1859G=
XP_011508661.1:p.Arg620=
XM_011510360.1:c.299G=
XP_011508662.1:p.Arg100=
XM_011510361.1:c.290G=
XP_011508663.1:p.Arg97=
XM_011510357.2:c.2369G=
XP_011508659.1:p.Arg790=
XM_011510358.2:c.2498G=
XP_011508660.1:p.Arg833=
XM_011510360.2:c.299G=
XP_011508662.1:p.Arg100=
XM_011510361.2:c.290G=
XP_011508663.1:p.Arg97=
XM_017004317.1:c.2498G=
XP_016859806.1:p.Arg833=
XM_024452961.1:c.1859G=
XP_024308729.1:p.Arg620=
NM_015909.4:c.2498G=
MANE Select
NP_056993.2:p.Arg833=
NR_052013.3:n.2528G=