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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.39244493G>A , CM000666.2:g.39244493G>A
GRCh38
NC_000004.11:g.39246113G>A , CM000666.1:g.39246113G>A
GRCh37
NC_000004.10:g.38922508G>A
NCBI36
NG_031813.1:g.67090G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000399820.8:c.2586G>A
MANE Select
ENSP00000382717.3:p.Leu862=
ENST00000399820.7:c.2586G>A
ENSP00000382717.3:p.Leu862=
ENST00000506869.5:c.*2167G>A
ENSP00000424319.1:n.*2167G>A
ENST00000512095.5:n.1584G>A
NM_025132.3:c.2586G>A
NP_079408.3:p.Leu862=
XM_011513724.1:c.2598G>A
XP_011512026.1:p.Leu866=
XM_011513725.1:c.2532G>A
XP_011512027.1:p.Leu844=
XM_011513726.1:c.2118G>A
XP_011512028.1:p.Leu706=
XM_011513727.1:c.2118G>A
XP_011512029.1:p.Leu706=
XM_011513728.1:c.2106G>A
XP_011512030.1:p.Leu702=
XM_011513729.1:c.2598G>A
XP_011512031.1:p.Leu866=
XR_925155.1:n.2662G>A
NM_001317924.1:c.2106G>A
NP_001304853.1:p.Leu702=
XM_011513725.2:c.2532G>A
XP_011512027.1:p.Leu844=
XM_011513726.3:c.2118G>A
XP_011512028.1:p.Leu706=
XM_017008501.1:c.2106G>A
XP_016863990.1:p.Leu702=
XR_001741306.1:n.2662G>A
XR_001741307.1:n.2650G>A
XR_001741308.1:n.2662G>A
XR_001741309.1:n.2650G>A
XR_001741310.1:n.2650G>A
XR_001741311.2:n.2499G>A
NM_025132.4:c.2586G>A
MANE Select
NP_079408.3:p.Leu862=
NM_001317924.2:c.2106G>A
NP_001304853.1:p.Leu702=