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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.173909604C= , CM000663.2:g.173909604C=
GRCh38
NC_000001.10:g.173878742C= , CM000663.1:g.173878742C=
GRCh37
NC_000001.9:g.172145365C=
NCBI36
NG_012462.1:g.12775G= , LRG_577:g.12775G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367698.4:c.1101G=
MANE Select
ENSP00000356671.3:p.Leu367=
ENST00000367698.3:c.1101G=
ENSP00000356671.3:p.Leu367=
ENST00000617423.4:c.560-2111G=
ENSP00000478688.1:n.560-2111G=
NM_000488.3:c.1101G= , LRG_577t1:c.1101G=
NP_000479.1:p.Leu367=
XM_005245198.2:c.957G=
XP_005245255.1:p.Leu319=
NM_001365052.1:c.957G=
NP_001351981.1:p.Leu319=
NM_000488.4:c.1101G=
MANE Select
NP_000479.1:p.Leu367=
NM_001365052.2:c.957G=
NP_001351981.1:p.Leu319=
NM_001386302.1:c.1224G=
NP_001373231.1:p.Leu408=
NM_001386303.1:c.1182G=
NP_001373232.1:p.Leu394=
NM_001386304.1:c.1080G=
NP_001373233.1:p.Leu360=
NM_001386305.1:c.1044G=
NP_001373234.1:p.Leu348=
NM_001386306.1:c.885G=
NP_001373235.1:p.Leu295=