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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.169542222A>G , CM000663.2:g.169542222A>G
GRCh38
NC_000001.10:g.169511460A>G , CM000663.1:g.169511460A>G
GRCh37
NC_000001.9:g.167778084A>G
NCBI36
NG_011806.1:g.49310T>C , LRG_553:g.49310T>C
Transcript Alleles
HGVS
Amino-acid Change
NM_000130.5:c.2868T>C
MANE Select
NP_000121.2:p.Tyr956=
ENST00000367797.9:c.2868T>C
MANE Select
ENSP00000356771.3:p.Tyr956=
NM_000130.4:c.2868T>C , LRG_553t1:c.2868T>C
NP_000121.2:p.Tyr956=
ENST00000367796.3:c.2883T>C
ENSP00000356770.3:p.Tyr961=
ENST00000367797.7:c.2868T>C
ENSP00000356771.3:p.Tyr956=
XM_017000660.2:c.2457T>C
XP_016856149.1:p.Tyr819=