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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.173903929A= , CM000663.2:g.173903929A=
GRCh38
NC_000001.10:g.173873067A= , CM000663.1:g.173873067A=
GRCh37
NC_000001.9:g.172139690A=
NCBI36
NG_012462.1:g.18450T= , LRG_577:g.18450T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367698.4:c.1355T=
MANE Select
ENSP00000356671.3:p.Ile452=
ENST00000367698.3:c.1355T=
ENSP00000356671.3:p.Ile452=
ENST00000617423.4:c.740T=
ENSP00000478688.1:p.Ile247=
NM_000488.3:c.1355T= , LRG_577t1:c.1355T=
NP_000479.1:p.Ile452=
XM_005245198.2:c.1211T=
XP_005245255.1:p.Ile404=
NM_001365052.1:c.1211T=
NP_001351981.1:p.Ile404=
NM_000488.4:c.1355T=
MANE Select
NP_000479.1:p.Ile452=
NM_001365052.2:c.1211T=
NP_001351981.1:p.Ile404=
NM_001386302.1:c.1478T=
NP_001373231.1:p.Ile493=
NM_001386303.1:c.1436T=
NP_001373232.1:p.Ile479=
NM_001386304.1:c.1334T=
NP_001373233.1:p.Ile445=
NM_001386305.1:c.1298T=
NP_001373234.1:p.Ile433=
NM_001386306.1:c.1139T=
NP_001373235.1:p.Ile380=