Canonical Allele Identifier: CA2721793191
Gene:

Linked Data

dbSNP Id: rs2132200818

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.57812624T>G , CM000672.2:g.57812624T>G GRCh38
NC_000010.10:g.59572384T>G , CM000672.1:g.59572384T>G GRCh37
NC_000010.9:g.59242390T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945979.1:n.68+34668A>C
XR_001747454.1:n.85+34668A>C