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Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.74725644T= , CM000667.2:g.74725644T=
GRCh38
NC_000005.9:g.74021469T= , CM000667.1:g.74021469T=
GRCh37
NC_000005.8:g.74057225T=
NCBI36
NG_011531.1:g.46574A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000296805.8:c.2024A=
MANE Select
ENSP00000296805.3:p.Gln675=
ENST00000296805.7:c.2024A=
ENSP00000296805.3:p.Gln675=
ENST00000345239.6:c.1883A=
ENSP00000296804.3:p.Gln628=
ENST00000509430.5:c.2024A=
ENSP00000427004.1:p.Gln675=
ENST00000515125.5:n.431+297A=
NM_001281302.1:c.2120A=
NP_001268231.1:p.Gln707=
NM_032380.4:c.2024A=
NP_115756.2:p.Gln675=
NM_170691.2:c.1883A=
NP_733792.1:p.Gln628=
NR_104006.1:n.2343A=
XM_006714721.2:c.1889A=
XP_006714784.1:p.Gln630=
XM_011543690.1:c.2024A=
XP_011541992.1:p.Gln675=
XM_017009986.1:c.2024A=
XP_016865475.1:p.Gln675=
XR_002956185.1:n.3310A=
NM_032380.5:c.2024A=
MANE Select
NP_115756.2:p.Gln675=
NM_001281302.2:c.2120A=
NP_001268231.1:p.Gln707=
NM_170691.3:c.1883A=
NP_733792.1:p.Gln628=
NR_104006.2:n.2089A=