Canonical Allele Identifier: CA2721793249
Gene:

Linked Data

dbSNP Id: rs2132200928

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.57812839T>C , CM000672.2:g.57812839T>C GRCh38
NC_000010.10:g.59572599T>C , CM000672.1:g.59572599T>C GRCh37
NC_000010.9:g.59242605T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945979.1:n.68+34453A>G
XR_001747454.1:n.85+34453A>G