Canonical Allele Identifier: CA1816081189
Gene:

Linked Data

dbSNP Id: rs1586448163
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.122395793G>A , CM000670.2:g.122395793G>A GRCh38
NC_000008.10:g.123408032G>A , CM000670.1:g.123408032G>A GRCh37
NC_000008.9:g.123477213G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928599.1:n.152+3379C>T
XR_928599.3:n.152+3379C>T
Search 100 bp 5'
Search 100 bp 3'