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Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.2885461G= , CM000673.2:g.2885461G=
GRCh38
NC_000011.9:g.2906691G= , CM000673.1:g.2906691G=
GRCh37
NC_000011.8:g.2863267G=
NCBI36
NG_008022.1:g.5305C= , LRG_533:g.5305C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000681969.1:n.142+173C=
ENST00000380725.2:c.-5C=
ENSP00000370101.1:n.-5C=
ENST00000414822.8:c.29C=
ENSP00000413720.3:p.Ser10=
ENST00000430149.3:c.29C=
ENSP00000411552.2:p.Ser10=
ENST00000440480.8:c.-5C=
MANE Select
ENSP00000411257.2:n.-5C=
ENST00000647251.1:c.-5C=
ENSP00000496631.1:n.-5C=
ENST00000380725.1:c.-5C=
ENSP00000370101.1:n.-5C=
ENST00000414822.7:c.29C=
ENSP00000413720.3:p.Ser10=
ENST00000430149.2:c.29C=
ENSP00000411552.2:p.Ser10=
ENST00000440480.6:c.-5C=
ENSP00000411257.2:n.-5C=
NM_000076.2:c.29C= , LRG_533t1:c.29C=
NP_000067.1:p.Ser10=
NM_001122630.1:c.-5C=
NP_001116102.1:n.-5C=
NM_001122631.1:c.-5C=
NP_001116103.1:n.-5C=
XM_005252732.3:c.-5C=
XP_005252789.1:n.-5C=
NM_001362474.1:c.29C=
NP_001349403.1:p.Ser10=
NM_001362475.1:c.-5C=
NP_001349404.1:n.-5C=
NM_001122630.2:c.-5C=
MANE Select
NP_001116102.1:n.-5C=
NM_001122631.2:c.-5C=
NP_001116103.1:n.-5C=
NM_001362474.2:c.29C=
NP_001349403.1:p.Ser10=
NM_001362475.2:c.-5C=
NP_001349404.1:n.-5C=