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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.39244316G>C , CM000666.2:g.39244316G>C
GRCh38
NC_000004.11:g.39245936G>C , CM000666.1:g.39245936G>C
GRCh37
NC_000004.10:g.38922331G>C
NCBI36
NG_031813.1:g.66913G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000399820.8:c.2490G>C
MANE Select
ENSP00000382717.3:p.Gly830=
ENST00000399820.7:c.2490G>C
ENSP00000382717.3:p.Gly830=
ENST00000506869.5:c.*2071G>C
ENSP00000424319.1:n.*2071G>C
ENST00000512095.5:n.1488G>C
NM_025132.3:c.2490G>C
NP_079408.3:p.Gly830=
XM_011513724.1:c.2502G>C
XP_011512026.1:p.Gly834=
XM_011513725.1:c.2436G>C
XP_011512027.1:p.Gly812=
XM_011513726.1:c.2022G>C
XP_011512028.1:p.Gly674=
XM_011513727.1:c.2022G>C
XP_011512029.1:p.Gly674=
XM_011513728.1:c.2010G>C
XP_011512030.1:p.Gly670=
XM_011513729.1:c.2502G>C
XP_011512031.1:p.Gly834=
XR_925155.1:n.2566G>C
NM_001317924.1:c.2010G>C
NP_001304853.1:p.Gly670=
XM_011513725.2:c.2436G>C
XP_011512027.1:p.Gly812=
XM_011513726.3:c.2022G>C
XP_011512028.1:p.Gly674=
XM_017008501.1:c.2010G>C
XP_016863990.1:p.Gly670=
XR_001741306.1:n.2566G>C
XR_001741307.1:n.2554G>C
XR_001741308.1:n.2566G>C
XR_001741309.1:n.2554G>C
XR_001741310.1:n.2554G>C
XR_001741311.2:n.2403G>C
NM_025132.4:c.2490G>C
MANE Select
NP_079408.3:p.Gly830=
NM_001317924.2:c.2010G>C
NP_001304853.1:p.Gly670=