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Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.47566735C>G , CM000685.2:g.47566735C>G
GRCh38
NC_000023.10:g.47426134C>G , CM000685.1:g.47426134C>G
GRCh37
NC_000023.9:g.47311078C>G
NCBI36
NG_016339.1:g.10619C>G
NG_016339.2:g.10619C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000377045.9:c.654C>G
MANE Select
ENSP00000366244.4:p.Val218=
ENST00000290277.10:c.663C>G
ENSP00000290277.7:p.Val221=
ENST00000377045.8:c.654C>G
ENSP00000366244.4:p.Val218=
NM_001256196.1:c.663C>G
NP_001243125.1:p.Val221=
NM_001654.4:c.654C>G
NP_001645.1:p.Val218=
XM_006724529.1:c.669C>G
XP_006724592.1:p.Val223=
XM_011543906.1:c.669C>G
XP_011542208.1:p.Val223=
XM_011543907.1:c.669C>G
XP_011542209.1:p.Val223=
XM_011543908.1:c.654C>G
XP_011542210.1:p.Val218=
XM_011543909.1:c.-4C>G
XP_011542211.1:n.-4C>G
XM_006724529.3:c.669C>G
XP_006724592.1:p.Val223=
XM_011543906.3:c.669C>G
XP_011542208.1:p.Val223=
XM_011543908.3:c.654C>G
XP_011542210.1:p.Val218=
XM_011543909.3:c.-4C>G
XP_011542211.1:n.-4C>G
NM_001654.5:c.654C>G
MANE Select
NP_001645.1:p.Val218=
NM_001256196.2:c.663C>G
NP_001243125.1:p.Val221=