Canonical Allele Identifier: CA1247519135
Gene:

Linked Data

dbSNP Id: rs1572549217

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.41534673T>C , CM000664.2:g.41534673T>C GRCh38
NC_000002.11:g.41761813T>C , CM000664.1:g.41761813T>C GRCh37
NC_000002.10:g.41615317T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_939996.1:n.181+3053A>G
XR_939997.1:n.146+3053A>G
XR_939997.2:n.9529+3053A>G