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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.3549060G= , CM000664.2:g.3549060G=
GRCh38
NC_000002.11:g.3596650G= , CM000664.1:g.3596650G=
GRCh37
NC_000002.10:g.3574525G=
NCBI36
NG_051310.1:g.14312C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000315212.4:c.562C=
MANE Select
ENSP00000313350.3:p.His188=
ENST00000654051.1:c.562C=
ENSP00000499604.1:p.His188=
ENST00000658393.1:c.562C=
ENSP00000499330.1:p.His188=
ENST00000315212.3:c.562C=
ENSP00000313350.3:p.His188=
ENST00000436842.5:c.*668C=
ENSP00000404926.1:n.*668C=
NM_001286834.1:c.484C=
NP_001273763.1:p.His162=
NM_001286837.1:c.211C=
NP_001273766.1:p.His71=
NM_002936.4:c.562C=
NP_002927.2:p.His188=
XR_244873.1:n.669C=
XR_922665.1:n.669C=
XR_922666.1:n.669C=
XR_922667.1:n.669C=
XR_922668.1:n.669C=
XR_922669.1:n.669C=
XR_922670.1:n.669C=
XR_922671.1:n.669C=
XR_922672.1:n.669C=
XR_922673.1:n.669C=
XR_922674.1:n.669C=
NM_001286834.2:c.484C=
NP_001273763.1:p.His162=
NM_001286837.2:c.211C=
NP_001273766.1:p.His71=
NM_002936.5:c.562C=
NP_002927.2:p.His188=
NR_148532.1:n.673C=
NR_148533.1:n.673C=
NR_148534.1:n.673C=
NM_001286837.3:c.211C=
NP_001273766.1:p.His71=
NR_148532.2:n.635C=
NR_148533.2:n.635C=
NR_148534.2:n.635C=
NM_001286834.3:c.484C=
NP_001273763.1:p.His162=
NM_001378271.1:c.562C=
NP_001365200.1:p.His188=
NM_001378272.1:c.559C=
NP_001365201.1:p.His187=
NM_001378273.1:c.547C=
NP_001365202.1:p.His183=
NM_002936.6:c.562C=
MANE Select
NP_002927.2:p.His188=
NR_165465.1:n.519C=
NR_165466.1:n.604C=
NR_165467.1:n.804C=
NR_165468.1:n.607C=