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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.100214820T>C , CM000663.2:g.100214820T>C
GRCh38
NC_000001.10:g.100680376T>C , CM000663.1:g.100680376T>C
GRCh37
NC_000001.9:g.100452964T>C
NCBI36
NG_011852.2:g.40034A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000681617.1:c.936A>G
ENSP00000505544.1:p.Leu312=
ENST00000681780.1:c.393A>G
ENSP00000505780.1:p.Leu131=
ENST00000370131.3:c.936A>G
ENSP00000359150.3:p.Leu312=
ENST00000370132.8:c.936A>G
MANE Select
ENSP00000359151.3:p.Leu312=
NM_001918.3:c.936A>G
NP_001909.3:p.Leu312=
XM_005270545.2:c.393A>G
XP_005270602.1:p.Leu131=
XM_005270546.2:c.393A>G
XP_005270603.1:p.Leu131=
XR_946560.1:n.956A>G
XM_005270545.4:c.393A>G
XP_005270602.1:p.Leu131=
XM_017000468.2:c.393A>G
XP_016855957.1:p.Leu131=
XM_017000469.2:c.393A>G
XP_016855958.1:p.Leu131=
XR_946560.3:n.953A>G
NM_001918.4:c.936A>G
NP_001909.3:p.Leu312=
NM_001918.5:c.936A>G
MANE Select
NP_001909.4:p.Leu312=
NM_001399969.1:c.393A>G
NP_001386898.1:p.Leu131=
NM_001399972.1:c.393A>G
NP_001386901.1:p.Leu131=
NR_174363.1:n.768A>G
NR_174364.1:n.950A>G
NR_174365.1:n.733A>G
NR_174366.1:n.950A>G