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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.30674229G= , CM000665.2:g.30674229G=
GRCh38
NC_000003.11:g.30715721G= , CM000665.1:g.30715721G=
GRCh37
NC_000003.10:g.30690725G=
NCBI36
NG_007490.1:g.72728G= , LRG_779:g.72728G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000295754.10:c.1379G=
MANE Select
ENSP00000295754.5:p.Arg460=
ENST00000672866.1:n.2975G=
ENST00000673203.1:n.257G=
ENST00000295754.9:c.1379G=
ENSP00000295754.5:p.Arg460=
ENST00000359013.4:c.1454G=
ENSP00000351905.4:p.Arg485=
NM_001024847.2:c.1454G= , LRG_779t1:c.1454G=
NP_001020018.1:p.Arg485=
NM_003242.5:c.1379G=
NP_003233.4:p.Arg460=
XM_011534043.1:c.1406G=
XP_011532345.1:p.Arg469=
XM_011534044.1:c.1331G=
XP_011532346.1:p.Arg444=
XM_011534045.1:c.1274G=
XP_011532347.1:p.Arg425=
XM_011534043.2:c.1406G=
XP_011532345.1:p.Arg469=
XM_011534045.3:c.1274G=
XP_011532347.1:p.Arg425=
XM_017007106.1:c.1274G=
XP_016862595.1:p.Arg425=
NM_003242.6:c.1379G=
MANE Select
NP_003233.4:p.Arg460=