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Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.144186715C= , CM000668.2:g.144186715C=
GRCh38
NC_000006.11:g.144507852C= , CM000668.1:g.144507852C=
GRCh37
NC_000006.10:g.144549545C=
NCBI36
NG_007613.1:g.41199C= , LRG_113:g.41199C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000698355.1:c.88C=
ENSP00000513678.1:p.His30=
ENST00000698356.1:c.88C=
ENSP00000513679.1:p.His30=
ENST00000698357.1:c.88C=
ENSP00000513680.1:p.His30=
ENST00000367568.5:c.88C=
MANE Select
ENSP00000356540.4:p.His30=
ENST00000367568.4:c.88C=
ENSP00000356540.4:p.His30=
NM_003764.3:c.88C= , LRG_113t1:c.88C=
NP_003755.2:p.His30=
XM_011536213.1:c.166C=
XP_011534515.1:p.His56=
XM_011536214.1:c.88C=
XP_011534516.1:p.His30=
XM_011536215.1:c.88C=
XP_011534517.1:p.His30=
XM_011536216.1:c.88C=
XP_011534518.1:p.His30=
XM_011536217.1:c.88C=
XP_011534519.1:p.His30=
XM_011536218.1:c.88C=
XP_011534520.1:p.His30=
XM_011536213.2:c.166C=
XP_011534515.1:p.His56=
XM_011536214.2:c.88C=
XP_011534516.1:p.His30=
XM_011536217.2:c.88C=
XP_011534519.1:p.His30=
XM_011536218.2:c.88C=
XP_011534520.1:p.His30=
XM_017011400.1:c.88C=
XP_016866889.1:p.His30=
NM_003764.4:c.88C=
MANE Select
NP_003755.2:p.His30=