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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.97675550C= , CM000671.2:g.97675550C=
GRCh38
NC_000009.11:g.100437832C= , CM000671.1:g.100437832C=
GRCh37
NC_000009.10:g.99477653C=
NCBI36
NG_011642.1:g.26860G= , LRG_471:g.26860G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375128.5:c.711G=
MANE Select
ENSP00000364270.5:p.Arg237=
ENST00000375128.4:c.711G=
ENSP00000364270.4:p.Arg237=
ENST00000462523.5:c.*147G=
ENSP00000433006.1:n.*147G=
ENST00000485042.1:n.223G=
NM_000380.3:c.711G= , LRG_471t1:c.711G=
NP_000371.1:p.Arg237=
NR_027302.1:n.1059G=
XM_006717278.1:c.711G=
XP_006717341.1:p.Arg237=
XM_011518988.1:c.711G=
XP_011517290.1:p.Arg237=
XR_929839.1:n.1242G=
NM_001354975.1:c.585G=
NP_001341904.1:p.Arg195=
NR_149091.1:n.556G=
NR_149092.1:n.722G=
NR_149093.1:n.1248G=
NR_149094.1:n.1142G=
NM_000380.4:c.711G=
MANE Select
NP_000371.1:p.Arg237=
NM_001354975.2:c.585G=
NP_001341904.1:p.Arg195=
NR_027302.2:n.990G=
NR_149091.2:n.487G=
NR_149092.2:n.653G=
NR_149093.2:n.1179G=
NR_149094.2:n.1073G=