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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.662221A= , CM000666.2:g.662221A=
GRCh38
NC_000004.11:g.656010A= , CM000666.1:g.656010A=
GRCh37
NC_000004.10:g.646010A=
NCBI36
NG_009839.1:g.41648A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000496514.6:c.1702A=
MANE Select
ENSP00000420295.1:p.Thr568=
ENST00000255622.10:c.1702A=
ENSP00000255622.6:p.Thr568=
ENST00000429163.6:c.865A=
ENSP00000406334.2:p.Thr289=
ENST00000496514.5:c.1702A=
ENSP00000420295.1:p.Thr568=
NM_000283.3:c.1702A=
NP_000274.2:p.Thr568=
NM_001145291.1:c.1702A=
NP_001138763.1:p.Thr568=
NM_001145292.1:c.865A=
NP_001138764.1:p.Thr289=
XM_011513473.1:c.1921A=
XP_011511775.1:p.Thr641=
XM_011513474.1:c.1921A=
XP_011511776.1:p.Thr641=
XM_011513475.1:c.1702A=
XP_011511777.1:p.Thr568=
XM_011513476.1:c.1921A=
XP_011511778.1:p.Thr641=
XM_011513477.1:c.907A=
XP_011511779.1:p.Thr303=
XM_011513478.1:c.631A=
XP_011511780.1:p.Thr211=
XR_925029.1:n.322T=
NM_001350154.1:c.865A=
NP_001337083.1:p.Thr289=
NM_001350155.1:c.547A=
NP_001337084.1:p.Thr183=
XM_011513473.3:c.1921A=
XP_011511775.1:p.Thr641=
XM_011513474.3:c.1921A=
XP_011511776.1:p.Thr641=
XM_011513475.2:c.1702A=
XP_011511777.1:p.Thr568=
XM_011513476.3:c.1921A=
XP_011511778.1:p.Thr641=
XM_011513478.2:c.631A=
XP_011511780.1:p.Thr211=
XM_017008284.1:c.865A=
XP_016863773.1:p.Thr289=
XM_017008285.1:c.865A=
XP_016863774.1:p.Thr289=
XM_017008286.1:c.865A=
XP_016863775.1:p.Thr289=
NM_001350154.2:c.865A=
NP_001337083.1:p.Thr289=
NM_001350155.2:c.547A=
NP_001337084.1:p.Thr183=
NM_000283.4:c.1702A=
MANE Select
NP_000274.3:p.Thr568=
NM_001145291.2:c.1702A=
NP_001138763.2:p.Thr568=
NM_001145292.2:c.865A=
NP_001138764.2:p.Thr289=
NM_001350154.3:c.865A=
NP_001337083.1:p.Thr289=
NM_001350155.3:c.547A=
NP_001337084.1:p.Thr183=
NM_001379246.1:c.865A=
NP_001366175.1:p.Thr289=
NM_001379247.1:c.865A=
NP_001366176.1:p.Thr289=