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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.173909687G= , CM000663.2:g.173909687G=
GRCh38
NC_000001.10:g.173878825G= , CM000663.1:g.173878825G=
GRCh37
NC_000001.9:g.172145448G=
NCBI36
NG_012462.1:g.12692C= , LRG_577:g.12692C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367698.4:c.1018C=
MANE Select
ENSP00000356671.3:p.Leu340=
ENST00000367698.3:c.1018C=
ENSP00000356671.3:p.Leu340=
ENST00000617423.4:c.559+2177C=
ENSP00000478688.1:n.559+2177C=
NM_000488.3:c.1018C= , LRG_577t1:c.1018C=
NP_000479.1:p.Leu340=
XM_005245198.2:c.874C=
XP_005245255.1:p.Leu292=
NM_001365052.1:c.874C=
NP_001351981.1:p.Leu292=
NM_000488.4:c.1018C=
MANE Select
NP_000479.1:p.Leu340=
NM_001365052.2:c.874C=
NP_001351981.1:p.Leu292=
NM_001386302.1:c.1141C=
NP_001373231.1:p.Leu381=
NM_001386303.1:c.1099C=
NP_001373232.1:p.Leu367=
NM_001386304.1:c.997C=
NP_001373233.1:p.Leu333=
NM_001386305.1:c.961C=
NP_001373234.1:p.Leu321=
NM_001386306.1:c.802C=
NP_001373235.1:p.Leu268=