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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.173909733C= , CM000663.2:g.173909733C=
GRCh38
NC_000001.10:g.173878871C= , CM000663.1:g.173878871C=
GRCh37
NC_000001.9:g.172145494C=
NCBI36
NG_012462.1:g.12646G= , LRG_577:g.12646G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367698.4:c.972G=
MANE Select
ENSP00000356671.3:p.Leu324=
ENST00000367698.3:c.972G=
ENSP00000356671.3:p.Leu324=
ENST00000487183.1:n.623G=
ENST00000617423.4:c.559+2131G=
ENSP00000478688.1:n.559+2131G=
NM_000488.3:c.972G= , LRG_577t1:c.972G=
NP_000479.1:p.Leu324=
XM_005245198.2:c.828G=
XP_005245255.1:p.Leu276=
NM_001365052.1:c.828G=
NP_001351981.1:p.Leu276=
NM_000488.4:c.972G=
MANE Select
NP_000479.1:p.Leu324=
NM_001365052.2:c.828G=
NP_001351981.1:p.Leu276=
NM_001386302.1:c.1095G=
NP_001373231.1:p.Leu365=
NM_001386303.1:c.1053G=
NP_001373232.1:p.Leu351=
NM_001386304.1:c.951G=
NP_001373233.1:p.Leu317=
NM_001386305.1:c.915G=
NP_001373234.1:p.Leu305=
NM_001386306.1:c.756G=
NP_001373235.1:p.Leu252=