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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.34517368C= , CM000671.2:g.34517368C=
GRCh38
NC_000009.11:g.34517366C= , CM000671.1:g.34517366C=
GRCh37
NC_000009.10:g.34507366C=
NCBI36
NG_008127.1:g.63556C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000242317.9:c.1902C=
MANE Select
ENSP00000242317.4:p.His634=
ENST00000242317.8:c.1902C=
ENSP00000242317.4:p.His634=
ENST00000442556.1:c.329+2629C=
ENST00000470169.5:c.690C=
ENST00000485580.1:n.478C=
ENST00000614641.4:c.1914C=
ENSP00000480538.1:p.His638=
NM_001281428.1:c.1914C=
NP_001268357.1:p.His638=
NM_012144.3:c.1902C=
NP_036276.1:p.His634=
XM_006716758.2:c.1371C=
XP_006716821.1:p.His457=
XM_011517848.1:c.1656C=
XP_011516150.1:p.His552=
XM_006716758.3:c.1371C=
XP_006716821.1:p.His457=
XM_011517848.2:c.1656C=
XP_011516150.1:p.His552=
XM_017014625.2:c.1644C=
XP_016870114.1:p.His548=
XR_002956774.1:n.2005C=
NM_012144.4:c.1902C=
MANE Select
NP_036276.1:p.His634=
NM_001281428.2:c.1914C=
NP_001268357.1:p.His638=