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Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.68746662G>C , CM000674.2:g.68746662G>C
GRCh38
NC_000012.11:g.69140442G>C , CM000674.1:g.69140442G>C
GRCh37
NC_000012.10:g.67426709G>C
NCBI36
NG_046600.2:g.64712G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000319429.7:n.528G>C
ENST00000398004.4:c.285G>C
MANE Select
ENSP00000381089.2:p.Leu95=
ENST00000673712.1:c.285G>C
ENSP00000501065.1:p.Leu95=
ENST00000674096.1:c.285G>C
ENSP00000501130.1:p.Leu95=
ENST00000398004.3:c.285G>C
ENSP00000381089.2:p.Leu95=
NM_018656.2:c.285G>C
NP_061126.2:p.Leu95=
XM_005269006.2:c.285G>C
XP_005269063.1:p.Leu95=
NM_001354997.1:c.285G>C
NP_001341926.1:p.Leu95=
NM_001354998.1:c.285G>C
NP_001341927.1:p.Leu95=
NM_018656.3:c.285G>C
NP_061126.2:p.Leu95=
NR_149143.1:n.577G>C
NR_149144.1:n.577G>C
NM_001354997.3:c.285G>C
NP_001341926.1:p.Leu95=
NM_001354998.2:c.285G>C
NP_001341927.1:p.Leu95=
NM_018656.5:c.285G>C
MANE Select
NP_061126.2:p.Leu95=
NR_149143.3:n.487G>C
NR_149144.3:n.487G>C