Canonical Allele Identifier: CA1247518990
Gene:

Linked Data

dbSNP Id: rs1572549069

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.41534461A>G , CM000664.2:g.41534461A>G GRCh38
NC_000002.11:g.41761601A>G , CM000664.1:g.41761601A>G GRCh37
NC_000002.10:g.41615105A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939996.1:n.181+3265T>C
XR_939997.1:n.146+3265T>C
XR_939997.2:n.9529+3265T>C