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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.169560704G>A , CM000663.2:g.169560704G>A
GRCh38
NC_000001.10:g.169529942G>A , CM000663.1:g.169529942G>A
GRCh37
NC_000001.9:g.167796566G>A
NCBI36
NG_011806.1:g.30828C>T , LRG_553:g.30828C>T
Transcript Alleles
HGVS
Amino-acid Change
NM_000130.5:c.436C>T
MANE Select
NP_000121.2:p.Arg146Ter
ENST00000367797.9:c.436C>T
MANE Select
ENSP00000356771.3:p.Arg146Ter
NM_000130.4:c.436C>T , LRG_553t1:c.436C>T
NP_000121.2:p.Arg146Ter
ENST00000367796.3:c.436C>T
ENSP00000356770.3:p.Arg146Ter
ENST00000367797.7:c.436C>T
ENSP00000356771.3:p.Arg146Ter
XM_017000660.2:c.25C>T
XP_016856149.1:p.Arg9Ter