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Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.13564321G>A , CM000674.2:g.13564321G>A
GRCh38
NC_000012.11:g.13717255G>A , CM000674.1:g.13717255G>A
GRCh37
NC_000012.10:g.13608522G>A
NCBI36
NG_031854.1:g.420768C>T
NG_031854.2:g.422692C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000609686.4:c.2917C>T
MANE Select
ENSP00000477455.1:p.Leu973=
ENST00000637214.1:c.69+44282C>T
ENSP00000489997.1:n.69+44282C>T
ENST00000609686.3:c.2917C>T
ENSP00000477455.1:p.Leu973=
ENST00000628166.1:n.1177C>T
NM_000834.3:c.2917C>T
NP_000825.2:p.Leu973=
XM_005253351.2:c.703C>T
XP_005253408.1:p.Leu235=
XM_011520628.1:c.2917C>T
XP_011518930.1:p.Leu973=
XM_011520629.1:c.2917C>T
XP_011518931.1:p.Leu973=
XM_011520630.1:c.2917C>T
XP_011518932.1:p.Leu973=
NM_000834.4:c.2917C>T
NP_000825.2:p.Leu973=
XM_005253351.3:c.703C>T
XP_005253408.1:p.Leu235=
XM_011520628.2:c.2917C>T
XP_011518930.1:p.Leu973=
XM_011520629.2:c.2917C>T
XP_011518931.1:p.Leu973=
XM_017019219.2:c.2917C>T
XP_016874708.1:p.Leu973=
NM_000834.5:c.2917C>T
MANE Select
NP_000825.2:p.Leu973=