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Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.64823094T>C , CM000676.2:g.64823094T>C
GRCh38
NC_000014.8:g.65289812T>C , CM000676.1:g.65289812T>C
GRCh37
NC_000014.7:g.64359565T>C
NCBI36
NG_016202.1:g.5055A>G
NG_016202.2:g.61799A>G
Transcript Alleles
HGVS
Amino-acid Change
NM_001355436.2:c.1A>G
MANE Select
NP_001342365.1:p.Met1Val
ENST00000644917.1:c.1A>G
MANE Select
ENSP00000495909.1:p.Met1Val
NM_000347.5:c.1A>G
NP_000338.3:p.Met1Val
NM_001024858.2:c.1A>G
NP_001020029.1:p.Met1Val
NM_001024858.3:c.1A>G
NP_001020029.1:p.Met1Val
NM_001024858.4:c.1A>G
NP_001020029.1:p.Met1Val
NM_001355437.2:c.1A>G
NP_001342366.1:p.Met1Val
ENST00000389720.3:c.1A>G
ENSP00000374370.3:p.Met1Val
ENST00000389720.4:c.1A>G
ENSP00000374370.4:p.Met1Val
ENST00000389721.9:c.1A>G
ENSP00000374371.5:p.Met1Val
ENST00000389722.7:c.1A>G
ENSP00000374372.3:p.Met1Val
ENST00000556626.5:c.1A>G
ENSP00000451752.1:p.Met1Val
XM_005268023.3:c.1A>G
XP_005268080.1:p.Met1Val
XM_011537105.1:c.1A>G
XP_011535407.1:p.Met1Val
XM_011537105.3:c.1A>G
XP_011535407.1:p.Met1Val
XM_017021612.2:c.1A>G
XP_016877101.1:p.Met1Val
XM_024449699.1:c.1A>G
XP_024305467.1:p.Met1Val