Canonical Allele Identifier: CA12763149
Gene:

Identifiers and link-outs to other resources

dbSNP Id: rs2609997

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.56447926T>C , CM000670.2:g.56447926T>C GRCh38
NC_000008.9:g.57523039T>C NCBI36
NC_000008.10:g.57360485T>C , CM000670.1:g.57360485T>C GRCh37

Transcript Alleles

HGVS Amino-acid change
NR_125813.1:n.694+1426T>C