Canonical Allele Identifier: CA1069332424
Gene:

Linked Data

dbSNP Id: rs1731230271

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.148649531A>G , CM000666.2:g.148649531A>G GRCh38
NC_000004.11:g.149570683A>G , CM000666.1:g.149570683A>G GRCh37
NC_000004.10:g.149790133A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_939336.1:n.437-30663T>C
XR_001741441.1:n.1745+104947A>G
XR_939336.3:n.2921-30663T>C