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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.9920547T>A , CM000666.2:g.9920547T>A
GRCh38
NC_000004.11:g.9922171T>A , CM000666.1:g.9922171T>A
GRCh37
NC_000004.10:g.9531269T>A
NCBI36
NG_011540.1:g.124702A>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264784.8:c.840A>T
MANE Select
ENSP00000264784.3:p.Ala280=
ENST00000264784.7:c.840A>T
ENSP00000264784.3:p.Ala280=
ENST00000309065.7:c.753A>T
ENSP00000311383.3:p.Ala251=
ENST00000505104.5:n.874A>T
ENST00000506583.5:c.753A>T
ENSP00000422209.1:p.Ala251=
NM_001001290.1:c.753A>T
NP_001001290.1:p.Ala251=
NM_020041.2:c.840A>T
NP_064425.2:p.Ala280=
XM_006713968.2:c.840A>T
XP_006714031.1:p.Ala280=
XM_006713969.2:c.753A>T
XP_006714032.1:p.Ala251=
XM_011513856.1:c.840A>T
XP_011512158.1:p.Ala280=
XM_011513857.1:c.753A>T
XP_011512159.1:p.Ala251=
XM_011513858.1:c.753A>T
XP_011512160.1:p.Ala251=
XM_011513859.1:c.840A>T
XP_011512161.1:p.Ala280=
XM_011513860.1:c.840A>T
XP_011512162.1:p.Ala280=
XM_011513861.1:c.840A>T
XP_011512163.1:p.Ala280=
XM_011513862.1:c.444A>T
XP_011512164.1:p.Ala148=
XM_011513863.1:c.444A>T
XP_011512165.1:p.Ala148=
XM_011513864.1:c.432A>T
XP_011512166.1:p.Ala144=
XM_011513865.1:c.840A>T
XP_011512167.1:p.Ala280=
XM_011513866.1:c.840A>T
XP_011512168.1:p.Ala280=
XM_011513867.1:c.282A>T
XP_011512169.1:p.Ala94=
XM_011513868.1:c.840A>T
XP_011512170.1:p.Ala280=
XR_925341.1:n.936A>T
XM_006713968.4:c.840A>T
XP_006714031.1:p.Ala280=
XM_011513856.3:c.840A>T
XP_011512158.1:p.Ala280=
XM_011513859.3:c.840A>T
XP_011512161.1:p.Ala280=
XM_011513860.3:c.840A>T
XP_011512162.1:p.Ala280=
XM_011513861.3:c.840A>T
XP_011512163.1:p.Ala280=
XM_011513862.3:c.444A>T
XP_011512164.1:p.Ala148=
XM_011513864.2:c.432A>T
XP_011512166.1:p.Ala144=
XM_011513865.2:c.840A>T
XP_011512167.1:p.Ala280=
XM_011513866.2:c.840A>T
XP_011512168.1:p.Ala280=
XM_011513867.3:c.282A>T
XP_011512169.1:p.Ala94=
XM_011513868.2:c.840A>T
XP_011512170.1:p.Ala280=
XM_017008457.2:c.840A>T
XP_016863946.1:p.Ala280=
XM_017008458.2:c.840A>T
XP_016863947.1:p.Ala280=
XM_017008459.1:c.378A>T
XP_016863948.1:p.Ala126=
XM_017008460.2:c.444A>T
XP_016863949.1:p.Ala148=
XM_024454150.1:c.840A>T
XP_024309918.1:p.Ala280=
XM_024454151.1:c.453A>T
XP_024309919.1:p.Ala151=
XM_024454152.1:c.840A>T
XP_024309920.1:p.Ala280=
XM_024454153.1:c.840A>T
XP_024309921.1:p.Ala280=
XR_001741290.1:n.1013A>T
XR_001741291.1:n.1013A>T
XR_925341.3:n.1017A>T
NM_020041.3:c.840A>T
MANE Select
NP_064425.2:p.Ala280=
NM_001001290.2:c.753A>T
NP_001001290.1:p.Ala251=