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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.50345578A>T , CM000665.2:g.50345578A>T
GRCh38
NC_000003.11:g.50383009A>T , CM000665.1:g.50383009A>T
GRCh37
NC_000003.10:g.50358013A>T
NCBI36
NG_023270.1:g.359T>A
NG_042828.1:g.5169T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000231749.8:c.2T>A
MANE Select
ENSP00000231749.3:p.Met1Lys
ENST00000231749.7:c.2T>A
ENSP00000231749.3:p.Met1Lys
ENST00000360165.7:c.2T>A
ENSP00000353289.3:p.Met1Lys
ENST00000431869.1:c.2T>A
ENSP00000391545.1:p.Met1Lys
ENST00000442887.1:c.-81T>A
ENSP00000393687.1:n.-81T>A
ENST00000443080.5:c.2T>A
ENSP00000415661.1:p.Met1Lys
ENST00000468182.1:n.104T>A
NM_001308379.1:c.2T>A
NP_001295308.1:p.Met1Lys
NM_015896.2:c.2T>A
NP_056980.2:p.Met1Lys
NM_015896.3:c.2T>A
NP_056980.2:p.Met1Lys
XM_005265216.2:c.-127T>A
XP_005265273.1:n.-127T>A
XM_005265216.3:c.-127T>A
XP_005265273.1:n.-127T>A
NM_015896.4:c.2T>A
MANE Select
NP_056980.2:p.Met1Lys
NM_001308379.2:c.2T>A
NP_001295308.1:p.Met1Lys