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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.173903925G= , CM000663.2:g.173903925G=
GRCh38
NC_000001.10:g.173873063G= , CM000663.1:g.173873063G=
GRCh37
NC_000001.9:g.172139686G=
NCBI36
NG_012462.1:g.18454C= , LRG_577:g.18454C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367698.4:c.1359C=
MANE Select
ENSP00000356671.3:p.Ile453=
ENST00000367698.3:c.1359C=
ENSP00000356671.3:p.Ile453=
ENST00000617423.4:c.744C=
ENSP00000478688.1:p.Ile248=
NM_000488.3:c.1359C= , LRG_577t1:c.1359C=
NP_000479.1:p.Ile453=
XM_005245198.2:c.1215C=
XP_005245255.1:p.Ile405=
NM_001365052.1:c.1215C=
NP_001351981.1:p.Ile405=
NM_000488.4:c.1359C=
MANE Select
NP_000479.1:p.Ile453=
NM_001365052.2:c.1215C=
NP_001351981.1:p.Ile405=
NM_001386302.1:c.1482C=
NP_001373231.1:p.Ile494=
NM_001386303.1:c.1440C=
NP_001373232.1:p.Ile480=
NM_001386304.1:c.1338C=
NP_001373233.1:p.Ile446=
NM_001386305.1:c.1302C=
NP_001373234.1:p.Ile434=
NM_001386306.1:c.1143C=
NP_001373235.1:p.Ile381=