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Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.99836239T>A , CM000672.2:g.99836239T>A
GRCh38
NC_000010.10:g.101595996T>A , CM000672.1:g.101595996T>A
GRCh37
NC_000010.9:g.101585986T>A
NCBI36
NG_011798.1:g.58534T>A
NG_011798.2:g.58642T>A
Transcript Alleles
HGVS
Amino-acid Change
NM_000392.5:c.3563T>A
MANE Select
NP_000383.2:p.Val1188Glu
ENST00000647814.1:c.3563T>A
MANE Select
ENSP00000497274.1:p.Val1188Glu
NM_000392.4:c.3563T>A
NP_000383.1:p.Val1188Glu
ENST00000370449.8:c.3563T>A
ENSP00000359478.4:p.Val1188Glu
XM_006717630.2:c.2867T>A
XP_006717693.1:p.Val956Glu
XM_006717630.3:c.2867T>A
XP_006717693.1:p.Val956Glu
XR_945604.1:n.3752T>A
XR_945604.3:n.3806T>A
XR_945605.1:n.3754T>A
XR_945605.3:n.3806T>A