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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.30674147A= , CM000665.2:g.30674147A=
GRCh38
NC_000003.11:g.30715639A= , CM000665.1:g.30715639A=
GRCh37
NC_000003.10:g.30690643A=
NCBI36
NG_007490.1:g.72646A= , LRG_779:g.72646A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000295754.10:c.1297A=
MANE Select
ENSP00000295754.5:p.Arg433=
ENST00000672866.1:n.2893A=
ENST00000673203.1:n.175A=
ENST00000295754.9:c.1297A=
ENSP00000295754.5:p.Arg433=
ENST00000359013.4:c.1372A=
ENSP00000351905.4:p.Arg458=
NM_001024847.2:c.1372A= , LRG_779t1:c.1372A=
NP_001020018.1:p.Arg458=
NM_003242.5:c.1297A=
NP_003233.4:p.Arg433=
XM_011534043.1:c.1324A=
XP_011532345.1:p.Arg442=
XM_011534044.1:c.1249A=
XP_011532346.1:p.Arg417=
XM_011534045.1:c.1192A=
XP_011532347.1:p.Arg398=
XM_011534043.2:c.1324A=
XP_011532345.1:p.Arg442=
XM_011534045.3:c.1192A=
XP_011532347.1:p.Arg398=
XM_017007106.1:c.1192A=
XP_016862595.1:p.Arg398=
NM_003242.6:c.1297A=
MANE Select
NP_003233.4:p.Arg433=