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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.34517363A= , CM000671.2:g.34517363A=
GRCh38
NC_000009.11:g.34517361A= , CM000671.1:g.34517361A=
GRCh37
NC_000009.10:g.34507361A=
NCBI36
NG_008127.1:g.63551A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000242317.9:c.1897A=
MANE Select
ENSP00000242317.4:p.Thr633=
ENST00000242317.8:c.1897A=
ENSP00000242317.4:p.Thr633=
ENST00000442556.1:c.329+2624A=
ENST00000470169.5:c.685A=
ENST00000485580.1:n.473A=
ENST00000614641.4:c.1909A=
ENSP00000480538.1:p.Thr637=
NM_001281428.1:c.1909A=
NP_001268357.1:p.Thr637=
NM_012144.3:c.1897A=
NP_036276.1:p.Thr633=
XM_006716758.2:c.1366A=
XP_006716821.1:p.Thr456=
XM_011517848.1:c.1651A=
XP_011516150.1:p.Thr551=
XM_006716758.3:c.1366A=
XP_006716821.1:p.Thr456=
XM_011517848.2:c.1651A=
XP_011516150.1:p.Thr551=
XM_017014625.2:c.1639A=
XP_016870114.1:p.Thr547=
XR_002956774.1:n.2000A=
NM_012144.4:c.1897A=
MANE Select
NP_036276.1:p.Thr633=
NM_001281428.2:c.1909A=
NP_001268357.1:p.Thr637=