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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.169586251G>C , CM000663.2:g.169586251G>C
GRCh38
NC_000001.10:g.169555489G>C , CM000663.1:g.169555489G>C
GRCh37
NC_000001.9:g.167822113G>C
NCBI36
NG_011806.1:g.5281C>G , LRG_553:g.5281C>G
Transcript Alleles
HGVS
Amino-acid Change
NM_000130.5:c.136C>G
MANE Select
NP_000121.2:p.Arg46Gly
ENST00000367797.9:c.136C>G
MANE Select
ENSP00000356771.3:p.Arg46Gly
NM_000130.4:c.136C>G , LRG_553t1:c.136C>G
NP_000121.2:p.Arg46Gly
ENST00000367796.3:c.136C>G
ENSP00000356770.3:p.Arg46Gly
ENST00000367797.7:c.136C>G
ENSP00000356771.3:p.Arg46Gly
XM_017000660.2:c.-184C>G
XP_016856149.1:n.-184C>G