Canonical Allele Identifier: CA2002397679
Gene:

Linked Data

dbSNP Id: rs1864208491
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116072410A>T , CM000673.2:g.116072410A>T GRCh38
NC_000011.9:g.115943128A>T , CM000673.1:g.115943128A>T GRCh37
NC_000011.8:g.115448338A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948055.1:n.192+604T>A
XR_948056.1:n.311-5205T>A
XR_948057.1:n.97+699T>A
XR_001748401.1:n.192+604T>A
XR_948055.2:n.192+604T>A
XR_948056.2:n.314-5205T>A
XR_948057.2:n.97+699T>A
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