Canonical Allele Identifier: CA2701239785
Gene:

Linked Data

dbSNP Id: rs2105810560

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.195007036C>T , CM000664.2:g.195007036C>T GRCh38
NC_000002.11:g.195871760C>T , CM000664.1:g.195871760C>T GRCh37
NC_000002.10:g.195580005C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001739836.1:n.553+52399G>A