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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.173909697C>T , CM000663.2:g.173909697C>T
GRCh38
NC_000001.10:g.173878835C>T , CM000663.1:g.173878835C>T
GRCh37
NC_000001.9:g.172145458C>T
NCBI36
NG_012462.1:g.12682G>A , LRG_577:g.12682G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367698.4:c.1008G>A
MANE Select
ENSP00000356671.3:p.Leu336=
ENST00000367698.3:c.1008G>A
ENSP00000356671.3:p.Leu336=
ENST00000617423.4:c.559+2167G>A
ENSP00000478688.1:n.559+2167G>A
NM_000488.3:c.1008G>A , LRG_577t1:c.1008G>A
NP_000479.1:p.Leu336=
XM_005245198.2:c.864G>A
XP_005245255.1:p.Leu288=
NM_001365052.1:c.864G>A
NP_001351981.1:p.Leu288=
NM_000488.4:c.1008G>A
MANE Select
NP_000479.1:p.Leu336=
NM_001365052.2:c.864G>A
NP_001351981.1:p.Leu288=
NM_001386302.1:c.1131G>A
NP_001373231.1:p.Leu377=
NM_001386303.1:c.1089G>A
NP_001373232.1:p.Leu363=
NM_001386304.1:c.987G>A
NP_001373233.1:p.Leu329=
NM_001386305.1:c.951G>A
NP_001373234.1:p.Leu317=
NM_001386306.1:c.792G>A
NP_001373235.1:p.Leu264=