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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.173909678A= , CM000663.2:g.173909678A=
GRCh38
NC_000001.10:g.173878816A= , CM000663.1:g.173878816A=
GRCh37
NC_000001.9:g.172145439A=
NCBI36
NG_012462.1:g.12701T= , LRG_577:g.12701T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367698.4:c.1027T=
MANE Select
ENSP00000356671.3:p.Leu343=
ENST00000367698.3:c.1027T=
ENSP00000356671.3:p.Leu343=
ENST00000617423.4:c.560-2185T=
ENSP00000478688.1:n.560-2185T=
NM_000488.3:c.1027T= , LRG_577t1:c.1027T=
NP_000479.1:p.Leu343=
XM_005245198.2:c.883T=
XP_005245255.1:p.Leu295=
NM_001365052.1:c.883T=
NP_001351981.1:p.Leu295=
NM_000488.4:c.1027T=
MANE Select
NP_000479.1:p.Leu343=
NM_001365052.2:c.883T=
NP_001351981.1:p.Leu295=
NM_001386302.1:c.1150T=
NP_001373231.1:p.Leu384=
NM_001386303.1:c.1108T=
NP_001373232.1:p.Leu370=
NM_001386304.1:c.1006T=
NP_001373233.1:p.Leu336=
NM_001386305.1:c.970T=
NP_001373234.1:p.Leu324=
NM_001386306.1:c.811T=
NP_001373235.1:p.Leu271=