Canonical Allele Identifier: CA1318169442
Gene:

Linked Data

dbSNP Id: rs1688119459

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.195007001G>T , CM000664.2:g.195007001G>T GRCh38
NC_000002.11:g.195871725G>T , CM000664.1:g.195871725G>T GRCh37
NC_000002.10:g.195579970G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001739836.1:n.553+52434C>A