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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.173909580C>A , CM000663.2:g.173909580C>A
GRCh38
NC_000001.10:g.173878718C>A , CM000663.1:g.173878718C>A
GRCh37
NC_000001.9:g.172145341C>A
NCBI36
NG_012462.1:g.12799G>T , LRG_577:g.12799G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367698.4:c.1125G>T
MANE Select
ENSP00000356671.3:p.Leu375=
ENST00000367698.3:c.1125G>T
ENSP00000356671.3:p.Leu375=
ENST00000617423.4:c.560-2087G>T
ENSP00000478688.1:n.560-2087G>T
NM_000488.3:c.1125G>T , LRG_577t1:c.1125G>T
NP_000479.1:p.Leu375=
XM_005245198.2:c.981G>T
XP_005245255.1:p.Leu327=
NM_001365052.1:c.981G>T
NP_001351981.1:p.Leu327=
NM_000488.4:c.1125G>T
MANE Select
NP_000479.1:p.Leu375=
NM_001365052.2:c.981G>T
NP_001351981.1:p.Leu327=
NM_001386302.1:c.1248G>T
NP_001373231.1:p.Leu416=
NM_001386303.1:c.1206G>T
NP_001373232.1:p.Leu402=
NM_001386304.1:c.1104G>T
NP_001373233.1:p.Leu368=
NM_001386305.1:c.1068G>T
NP_001373234.1:p.Leu356=
NM_001386306.1:c.909G>T
NP_001373235.1:p.Leu303=