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Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.58506863G>A , CM000679.2:g.58506863G>A
GRCh38
NC_000017.10:g.56584224G>A , CM000679.1:g.56584224G>A
GRCh37
NC_000017.9:g.53939223G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000682306.1:c.913C>T
MANE Select
ENSP00000507664.1:p.Leu305=
ENST00000323456.9:c.871C>T
ENSP00000325285.5:p.Leu291=
ENST00000579925.5:c.871C>T
ENSP00000464067.1:p.Leu291=
NM_004687.4:c.871C>T
NP_004678.3:p.Leu291=
XM_005257784.2:c.913C>T
XP_005257841.1:p.Leu305=
XM_005257785.3:c.883C>T
XP_005257842.1:p.Leu295=
XM_005257786.3:c.871C>T
XP_005257843.1:p.Leu291=
XM_006722168.2:c.871C>T
XP_006722231.1:p.Leu291=
XM_011525460.1:c.883C>T
XP_011523762.1:p.Leu295=
XM_005257785.5:c.883C>T
XP_005257842.1:p.Leu295=
XM_005257786.5:c.871C>T
XP_005257843.1:p.Leu291=
XM_006722168.4:c.871C>T
XP_006722231.1:p.Leu291=
XM_011525460.3:c.883C>T
XP_011523762.1:p.Leu295=
NM_004687.5:c.871C>T
NP_004678.3:p.Leu291=
NM_001378066.1:c.883C>T
NP_001364995.1:p.Leu295=
NM_001378067.1:c.913C>T
MANE Select
NP_001364996.1:p.Leu305=