Canonical Allele Identifier: CA1403137303

Linked Data

dbSNP Id: rs1130459

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133746439A>C , CM000665.2:g.133746439A>C GRCh38
NC_000003.11:g.133465283A>C , CM000665.1:g.133465283A>C GRCh37
NC_000003.10:g.134947973A>C NCBI36
NG_013080.1:g.5307A>C
NG_013080.2:g.89442A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000402696.9:c.-2A>C (TF) MANE Select ENSP00000385834.3:n.-2A>C
ENST00000402696.7:c.-2A>C (TF) ENSP00000385834.3:n.-2A>C
ENST00000414694.5:c.-2A>C (TF) ENSP00000401505.1:n.-2A>C
ENST00000460531.5:n.47A>C (TF)
ENST00000460564.5:n.382-7156A>C (INHCAP)
ENST00000466911.5:c.-90+190A>C (TF) ENSP00000417468.1:n.-90+190A>C
ENST00000474287.5:n.112A>C (TF)
ENST00000482271.5:c.-210A>C (TF) ENSP00000419338.1:n.-210A>C
ENST00000485977.1:c.-2A>C (TF) ENSP00000418716.1:n.-2A>C
ENST00000493011.5:n.47A>C (TF)
ENST00000494430.5:c.-2A>C (TF) ENSP00000418396.1:n.-2A>C
NM_001063.3:c.-2A>C (TF) NP_001054.1:n.-2A>C
XM_011513100.1:c.-2A>C (TF) XP_011511402.1:n.-2A>C
NM_001354703.1:c.-89-1973A>C (TF) NP_001341632.1:n.-89-1973A>C
NM_001354704.1:c.-210A>C (TF) NP_001341633.1:n.-210A>C
NM_001063.4:c.-2A>C (TF) MANE Select NP_001054.2:n.-2A>C
NM_001354703.2:c.-89-1973A>C (TF) NP_001341632.2:n.-89-1973A>C
NM_001354704.2:c.-210A>C (TF) NP_001341633.2:n.-210A>C