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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.98707665G>A , CM000677.2:g.98707665G>A
GRCh38
NC_000015.9:g.99250894G>A , CM000677.1:g.99250894G>A
GRCh37
NC_000015.8:g.97068417G>A
NCBI36
NG_009492.1:g.63134G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000649865.1:c.198G>A
ENSP00000496919.1:p.Lys66=
ENST00000650285.1:c.198G>A
MANE Select
ENSP00000497069.1:p.Lys66=
ENST00000268035.10:c.198G>A
ENSP00000268035.6:p.Lys66=
ENST00000558762.5:c.198G>A
ENSP00000453007.1:p.Lys66=
ENST00000559925.5:n.198G>A
NM_000875.4:c.198G>A
NP_000866.1:p.Lys66=
NM_001291858.1:c.198G>A
NP_001278787.1:p.Lys66=
XM_011521513.1:c.198G>A
XP_011519815.1:p.Lys66=
XM_011521514.1:c.198G>A
XP_011519816.1:p.Lys66=
XM_011521515.1:c.198G>A
XP_011519817.1:p.Lys66=
XM_017022136.1:c.273G>A
XP_016877625.1:p.Lys91=
XM_017022137.1:c.273G>A
XP_016877626.1:p.Lys91=
XM_017022138.1:c.273G>A
XP_016877627.1:p.Lys91=
XM_017022139.1:c.-166G>A
XP_016877628.1:n.-166G>A
NM_000875.5:c.198G>A
MANE Select
NP_000866.1:p.Lys66=
NM_001291858.2:c.198G>A
NP_001278787.1:p.Lys66=