Canonical Allele Identifier: CA1320377046

Gene:

Linked Data

• dbSNP Id: rs281761

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199899880T>G , CM000664.2:g.199899880T>G	GRCh38
NC_000002.11:g.200764603T>G , CM000664.1:g.200764603T>G	GRCh37
NC_000002.10:g.200472848T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_241382.2:n.281-5217A>C
XR_241383.3:n.200-5217A>C
XR_241384.3:n.218-5217A>C
XR_427210.2:n.223-5217A>C
XR_923762.1:n.217+9223A>C
XR_923763.1:n.316-5217A>C
XR_923764.1:n.218-5217A>C
XR_923765.1:n.218-3275A>C
XR_923766.1:n.217+9223A>C
XR_923767.1:n.218-5214A>C
XR_923768.1:n.218-5217A>C
XR_923769.1:n.217+9223A>C
XR_923770.1:n.350-1560A>C
XR_923771.1:n.199+9223A>C
XR_923772.1:n.298-5217A>C
XR_923773.1:n.200-3275A>C
XR_923774.1:n.217+9223A>C
XR_923775.1:n.217+9223A>C
XR_923776.1:n.217+9223A>C
XR_001739856.2:n.288+9223A>C
XR_001739857.2:n.293+9223A>C
XR_001739858.1:n.280+9223A>C
XR_241384.5:n.289-5217A>C
XR_923762.3:n.288+9223A>C
XR_923765.3:n.289-3275A>C
XR_923766.3:n.288+9223A>C
XR_923767.3:n.289-5214A>C
XR_923769.3:n.288+9223A>C
XR_923770.3:n.421-1560A>C
XR_923771.3:n.270+9223A>C
XR_923774.3:n.288+9223A>C
XR_923775.3:n.288+9223A>C
XR_923776.3:n.288+9223A>C