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Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.68746602C>A , CM000674.2:g.68746602C>A
GRCh38
NC_000012.11:g.69140382C>A , CM000674.1:g.69140382C>A
GRCh37
NC_000012.10:g.67426649C>A
NCBI36
NG_046600.2:g.64652C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000319429.7:n.468C>A
ENST00000398004.4:c.225C>A
MANE Select
ENSP00000381089.2:p.Ser75=
ENST00000673712.1:c.225C>A
ENSP00000501065.1:p.Ser75=
ENST00000674096.1:c.225C>A
ENSP00000501130.1:p.Ser75=
ENST00000398004.3:c.225C>A
ENSP00000381089.2:p.Ser75=
NM_018656.2:c.225C>A
NP_061126.2:p.Ser75=
XM_005269006.2:c.225C>A
XP_005269063.1:p.Ser75=
NM_001354997.1:c.225C>A
NP_001341926.1:p.Ser75=
NM_001354998.1:c.225C>A
NP_001341927.1:p.Ser75=
NM_018656.3:c.225C>A
NP_061126.2:p.Ser75=
NR_149143.1:n.517C>A
NR_149144.1:n.517C>A
NM_001354997.3:c.225C>A
NP_001341926.1:p.Ser75=
NM_001354998.2:c.225C>A
NP_001341927.1:p.Ser75=
NM_018656.5:c.225C>A
MANE Select
NP_061126.2:p.Ser75=
NR_149143.3:n.427C>A
NR_149144.3:n.427C>A