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Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.1206909C= , CM000681.2:g.1206909C=
GRCh38
NC_000019.9:g.1206908C= , CM000681.1:g.1206908C=
GRCh37
NC_000019.8:g.1157908C=
NCBI36
NG_007460.2:g.22503C= , LRG_319:g.22503C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000585465.3:c.-5C=
ENSP00000490268.2:n.-5C=
ENST00000585748.3:c.-82-11508C=
ENSP00000477641.2:n.-82-11508C=
ENST00000585851.2:c.-5C=
ENSP00000467912.2:n.-5C=
ENST00000326873.12:c.-5C=
MANE Select
ENSP00000324856.6:n.-5C=
ENST00000652231.1:c.-5C=
ENSP00000498804.1:n.-5C=
ENST00000326873.11:c.-5C=
ENSP00000324856.6:n.-5C=
ENST00000585748.2:c.-82-11508C=
ENSP00000477641.1:n.-82-11508C=
ENST00000585851.1:c.-5C=
ENSP00000467912.1:n.-5C=
ENST00000586243.5:c.-5C=
ENSP00000467240.2:n.-5C=
ENST00000589152.5:n.86C=
ENST00000593219.5:c.-5C=
ENSP00000466610.1:n.-5C=
NM_000455.4:c.-5C= , LRG_319t1:c.-5C=
NP_000446.1:n.-5C=
XM_005259617.1:c.-5C=
XP_005259674.1:n.-5C=
XM_005259618.3:c.-5C=
XP_005259675.1:n.-5C=
XM_011528209.1:c.-358C=
XP_011526511.1:n.-358C=
XR_936204.1:n.621C=
XM_005259617.3:c.-5C=
XP_005259674.1:n.-5C=
XM_011528209.2:c.-358C=
XP_011526511.1:n.-358C=
XR_001753738.2:n.621C=
XR_001753739.1:n.621C=
XR_001753740.2:n.621C=
NM_000455.5:c.-5C=
MANE Select
NP_000446.1:n.-5C=