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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.97675502T= , CM000671.2:g.97675502T=
GRCh38
NC_000009.11:g.100437784T= , CM000671.1:g.100437784T=
GRCh37
NC_000009.10:g.99477605T=
NCBI36
NG_011642.1:g.26908A= , LRG_471:g.26908A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375128.5:c.759A=
MANE Select
ENSP00000364270.5:p.Glu253=
ENST00000375128.4:c.759A=
ENSP00000364270.4:p.Glu253=
ENST00000462523.5:c.*195A=
ENSP00000433006.1:n.*195A=
ENST00000485042.1:n.271A=
NM_000380.3:c.759A= , LRG_471t1:c.759A=
NP_000371.1:p.Glu253=
NR_027302.1:n.1107A=
XM_006717278.1:c.759A=
XP_006717341.1:p.Glu253=
XM_011518988.1:c.759A=
XP_011517290.1:p.Glu253=
XR_929839.1:n.1290A=
NM_001354975.1:c.633A=
NP_001341904.1:p.Glu211=
NR_149091.1:n.604A=
NR_149092.1:n.770A=
NR_149093.1:n.1296A=
NR_149094.1:n.1190A=
NM_000380.4:c.759A=
MANE Select
NP_000371.1:p.Glu253=
NM_001354975.2:c.633A=
NP_001341904.1:p.Glu211=
NR_027302.2:n.1038A=
NR_149091.2:n.535A=
NR_149092.2:n.701A=
NR_149093.2:n.1227A=
NR_149094.2:n.1121A=