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Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.110342236T= , CM000674.2:g.110342236T=
GRCh38
NC_000012.11:g.110780041T= , CM000674.1:g.110780041T=
GRCh37
NC_000012.10:g.109264424T=
NCBI36
NG_007097.2:g.65610T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000539276.7:c.2106T=
MANE Select
ENSP00000440045.2:p.Asp702=
ENST00000308664.10:c.2106T=
ENSP00000311186.6:p.Asp702=
ENST00000377685.9:c.*1946T=
ENSP00000366913.4:n.*1946T=
ENST00000539276.6:c.2106T=
ENSP00000440045.2:p.Asp702=
ENST00000548169.2:c.1777T=
NM_001681.3:c.2106T=
NP_001672.1:p.Asp702=
NM_170665.3:c.2106T=
NP_733765.1:p.Asp702=
XM_005253888.1:c.2106T=
XP_005253945.1:p.Asp702=
XM_011538402.1:c.2106T=
XP_011536704.1:p.Asp702=
XM_011538403.1:c.2106T=
XP_011536705.1:p.Asp702=
XR_243009.1:n.2112T=
XM_005253888.3:c.2106T=
XP_005253945.1:p.Asp702=
XM_011538402.3:c.2106T=
XP_011536704.1:p.Asp702=
XR_002957329.1:n.2112T=
XR_243009.3:n.2112T=
NM_170665.4:c.2106T=
MANE Select
NP_733765.1:p.Asp702=
NM_001681.4:c.2106T=
NP_001672.1:p.Asp702=