Canonical Allele Identifier: CA1318169502
Gene:

Linked Data

dbSNP Id: rs1688123901

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.195007152T>A , CM000664.2:g.195007152T>A GRCh38
NC_000002.11:g.195871876T>A , CM000664.1:g.195871876T>A GRCh37
NC_000002.10:g.195580121T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001739836.1:n.553+52283A>T