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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.173909694T>C , CM000663.2:g.173909694T>C
GRCh38
NC_000001.10:g.173878832T>C , CM000663.1:g.173878832T>C
GRCh37
NC_000001.9:g.172145455T>C
NCBI36
NG_012462.1:g.12685A>G , LRG_577:g.12685A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367698.4:c.1011A>G
MANE Select
ENSP00000356671.3:p.Gln337=
ENST00000367698.3:c.1011A>G
ENSP00000356671.3:p.Gln337=
ENST00000617423.4:c.559+2170A>G
ENSP00000478688.1:n.559+2170A>G
NM_000488.3:c.1011A>G , LRG_577t1:c.1011A>G
NP_000479.1:p.Gln337=
XM_005245198.2:c.867A>G
XP_005245255.1:p.Gln289=
NM_001365052.1:c.867A>G
NP_001351981.1:p.Gln289=
NM_000488.4:c.1011A>G
MANE Select
NP_000479.1:p.Gln337=
NM_001365052.2:c.867A>G
NP_001351981.1:p.Gln289=
NM_001386302.1:c.1134A>G
NP_001373231.1:p.Gln378=
NM_001386303.1:c.1092A>G
NP_001373232.1:p.Gln364=
NM_001386304.1:c.990A>G
NP_001373233.1:p.Gln330=
NM_001386305.1:c.954A>G
NP_001373234.1:p.Gln318=
NM_001386306.1:c.795A>G
NP_001373235.1:p.Gln265=