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Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.76469706C>T , CM000679.2:g.76469706C>T
GRCh38
NC_000017.10:g.74465788C>T , CM000679.1:g.74465788C>T
GRCh37
NC_000017.9:g.71977383C>T
NCBI36
NG_015976.1:g.21356C>T
NG_032852.1:g.36722G>A , LRG_532:g.36722G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000392492.8:c.360C>T
MANE Select
ENSP00000376282.2:p.His120=
ENST00000250615.7:c.495C>T
ENSP00000250615.2:p.His165=
ENST00000392492.7:c.360C>T
ENSP00000376282.2:p.His120=
ENST00000587798.1:c.*137C>T
ENSP00000468239.1:n.*137C>T
NM_001088.2:c.360C>T
NP_001079.1:p.His120=
NM_001166579.1:c.495C>T
NP_001160051.1:p.His165=
NR_110548.1:n.671C>T
XM_011524415.1:c.360C>T
XP_011522717.1:p.His120=
XM_011524416.1:c.567C>T
XP_011522718.1:p.His189=
XM_011524417.1:c.567C>T
XP_011522719.1:p.His189=
XM_011524418.1:c.567C>T
XP_011522720.1:p.His189=
XM_011524419.1:c.567C>T
XP_011522721.1:p.His189=
XM_011524420.1:c.567C>T
XP_011522722.1:p.His189=
XM_011524421.1:c.567C>T
XP_011522723.1:p.His189=
XM_011524422.1:c.450C>T
XP_011522724.1:p.His150=
XM_011524423.1:c.360C>T
XP_011522725.1:p.His120=
XM_017024259.1:c.474C>T
XP_016879748.1:p.His158=
NM_001088.3:c.360C>T
MANE Select
NP_001079.1:p.His120=
NR_110548.2:n.616C>T
NM_001166579.2:c.495C>T
NP_001160051.1:p.His165=