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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.97675535A= , CM000671.2:g.97675535A=
GRCh38
NC_000009.11:g.100437817A= , CM000671.1:g.100437817A=
GRCh37
NC_000009.10:g.99477638A=
NCBI36
NG_011642.1:g.26875T= , LRG_471:g.26875T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375128.5:c.726T=
MANE Select
ENSP00000364270.5:p.His242=
ENST00000375128.4:c.726T=
ENSP00000364270.4:p.His242=
ENST00000462523.5:c.*162T=
ENSP00000433006.1:n.*162T=
ENST00000485042.1:n.238T=
NM_000380.3:c.726T= , LRG_471t1:c.726T=
NP_000371.1:p.His242=
NR_027302.1:n.1074T=
XM_006717278.1:c.726T=
XP_006717341.1:p.His242=
XM_011518988.1:c.726T=
XP_011517290.1:p.His242=
XR_929839.1:n.1257T=
NM_001354975.1:c.600T=
NP_001341904.1:p.His200=
NR_149091.1:n.571T=
NR_149092.1:n.737T=
NR_149093.1:n.1263T=
NR_149094.1:n.1157T=
NM_000380.4:c.726T=
MANE Select
NP_000371.1:p.His242=
NM_001354975.2:c.600T=
NP_001341904.1:p.His200=
NR_027302.2:n.1005T=
NR_149091.2:n.502T=
NR_149092.2:n.668T=
NR_149093.2:n.1194T=
NR_149094.2:n.1088T=