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Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.70757997G>C , CM000672.2:g.70757997G>C
GRCh38
NC_000010.10:g.72517753G>C , CM000672.1:g.72517753G>C
GRCh37
NC_000010.9:g.72187759G>C
NCBI36
NG_042147.1:g.90195G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000373207.2:c.2973G>C
MANE Select
ENSP00000362303.1:p.Arg991=
ENST00000373207.1:c.2973G>C
ENSP00000362303.1:p.Arg991=
ENST00000373208.5:c.2982G>C
ENSP00000362304.1:p.Arg994=
NM_080722.3:c.2973G>C
NP_542453.2:p.Arg991=
NM_139155.2:c.2982G>C
NP_631894.2:p.Arg994=
XM_011539300.1:c.2472G>C
XP_011537602.1:p.Arg824=
XM_011539301.1:c.2046G>C
XP_011537603.1:p.Arg682=
XM_011539302.1:c.2046G>C
XP_011537604.1:p.Arg682=
XM_011539308.1:c.*52G>C
XP_011537610.1:n.*52G>C
XM_011539309.1:c.1542G>C
XP_011537611.1:p.Arg514=
NM_080722.4:c.2973G>C
MANE Select
NP_542453.2:p.Arg991=
NM_139155.3:c.2982G>C
NP_631894.2:p.Arg994=
XM_011539300.2:c.2472G>C
XP_011537602.1:p.Arg824=
XM_011539301.2:c.2046G>C
XP_011537603.1:p.Arg682=
XM_011539302.2:c.2046G>C
XP_011537604.1:p.Arg682=
XM_011539308.2:c.*52G>C
XP_011537610.1:n.*52G>C