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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.97675542A= , CM000671.2:g.97675542A=
GRCh38
NC_000009.11:g.100437824A= , CM000671.1:g.100437824A=
GRCh37
NC_000009.10:g.99477645A=
NCBI36
NG_011642.1:g.26868T= , LRG_471:g.26868T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375128.5:c.719T=
MANE Select
ENSP00000364270.5:p.Ile240=
ENST00000375128.4:c.719T=
ENSP00000364270.4:p.Ile240=
ENST00000462523.5:c.*155T=
ENSP00000433006.1:n.*155T=
ENST00000485042.1:n.231T=
NM_000380.3:c.719T= , LRG_471t1:c.719T=
NP_000371.1:p.Ile240=
NR_027302.1:n.1067T=
XM_006717278.1:c.719T=
XP_006717341.1:p.Ile240=
XM_011518988.1:c.719T=
XP_011517290.1:p.Ile240=
XR_929839.1:n.1250T=
NM_001354975.1:c.593T=
NP_001341904.1:p.Ile198=
NR_149091.1:n.564T=
NR_149092.1:n.730T=
NR_149093.1:n.1256T=
NR_149094.1:n.1150T=
NM_000380.4:c.719T=
MANE Select
NP_000371.1:p.Ile240=
NM_001354975.2:c.593T=
NP_001341904.1:p.Ile198=
NR_027302.2:n.998T=
NR_149091.2:n.495T=
NR_149092.2:n.661T=
NR_149093.2:n.1187T=
NR_149094.2:n.1081T=