Canonical Allele Identifier: CA1912720781
Gene:

Linked Data

dbSNP Id: rs1839459930

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.57812637T>C , CM000672.2:g.57812637T>C GRCh38
NC_000010.10:g.59572397T>C , CM000672.1:g.59572397T>C GRCh37
NC_000010.9:g.59242403T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945979.1:n.68+34655A>G
XR_001747454.1:n.85+34655A>G