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Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.110340943C= , CM000674.2:g.110340943C=
GRCh38
NC_000012.11:g.110778748C= , CM000674.1:g.110778748C=
GRCh37
NC_000012.10:g.109263131C=
NCBI36
NG_007097.2:g.64317C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000539276.7:c.2046C=
MANE Select
ENSP00000440045.2:p.His682=
ENST00000308664.10:c.2046C=
ENSP00000311186.6:p.His682=
ENST00000377685.9:c.*1886C=
ENSP00000366913.4:n.*1886C=
ENST00000539276.6:c.2046C=
ENSP00000440045.2:p.His682=
ENST00000548169.2:c.1717C=
NM_001681.3:c.2046C=
NP_001672.1:p.His682=
NM_170665.3:c.2046C=
NP_733765.1:p.His682=
XM_005253888.1:c.2046C=
XP_005253945.1:p.His682=
XM_011538402.1:c.2046C=
XP_011536704.1:p.His682=
XM_011538403.1:c.2046C=
XP_011536705.1:p.His682=
XR_243009.1:n.2052C=
XM_005253888.3:c.2046C=
XP_005253945.1:p.His682=
XM_011538402.3:c.2046C=
XP_011536704.1:p.His682=
XR_002957329.1:n.2052C=
XR_243009.3:n.2052C=
NM_170665.4:c.2046C=
MANE Select
NP_733765.1:p.His682=
NM_001681.4:c.2046C=
NP_001672.1:p.His682=