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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.97675488C= , CM000671.2:g.97675488C=
GRCh38
NC_000009.11:g.100437770C= , CM000671.1:g.100437770C=
GRCh37
NC_000009.10:g.99477591C=
NCBI36
NG_011642.1:g.26922G= , LRG_471:g.26922G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375128.5:c.773G=
MANE Select
ENSP00000364270.5:p.Arg258=
ENST00000375128.4:c.773G=
ENSP00000364270.4:p.Arg258=
ENST00000462523.5:c.*209G=
ENSP00000433006.1:n.*209G=
ENST00000485042.1:n.285G=
NM_000380.3:c.773G= , LRG_471t1:c.773G=
NP_000371.1:p.Arg258=
NR_027302.1:n.1121G=
XM_006717278.1:c.772+1G=
XP_006717341.1:n.772+1G=
XM_011518988.1:c.772+1G=
XP_011517290.1:n.772+1G=
NM_001354975.1:c.647G=
NP_001341904.1:p.Arg216=
NR_149091.1:n.618G=
NR_149092.1:n.784G=
NR_149093.1:n.1310G=
NR_149094.1:n.1204G=
NM_000380.4:c.773G=
MANE Select
NP_000371.1:p.Arg258=
NM_001354975.2:c.647G=
NP_001341904.1:p.Arg216=
NR_027302.2:n.1052G=
NR_149091.2:n.549G=
NR_149092.2:n.715G=
NR_149093.2:n.1241G=
NR_149094.2:n.1135G=