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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.173909689C= , CM000663.2:g.173909689C=
GRCh38
NC_000001.10:g.173878827C= , CM000663.1:g.173878827C=
GRCh37
NC_000001.9:g.172145450C=
NCBI36
NG_012462.1:g.12690G= , LRG_577:g.12690G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367698.4:c.1016G=
MANE Select
ENSP00000356671.3:p.Trp339=
ENST00000367698.3:c.1016G=
ENSP00000356671.3:p.Trp339=
ENST00000617423.4:c.559+2175G=
ENSP00000478688.1:n.559+2175G=
NM_000488.3:c.1016G= , LRG_577t1:c.1016G=
NP_000479.1:p.Trp339=
XM_005245198.2:c.872G=
XP_005245255.1:p.Trp291=
NM_001365052.1:c.872G=
NP_001351981.1:p.Trp291=
NM_000488.4:c.1016G=
MANE Select
NP_000479.1:p.Trp339=
NM_001365052.2:c.872G=
NP_001351981.1:p.Trp291=
NM_001386302.1:c.1139G=
NP_001373231.1:p.Trp380=
NM_001386303.1:c.1097G=
NP_001373232.1:p.Trp366=
NM_001386304.1:c.995G=
NP_001373233.1:p.Trp332=
NM_001386305.1:c.959G=
NP_001373234.1:p.Trp320=
NM_001386306.1:c.800G=
NP_001373235.1:p.Trp267=