Canonical Allele Identifier: CA93117904
Gene:

Linked Data

dbSNP Id: rs971214283

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.12578141T>C , CM000666.2:g.12578141T>C GRCh38
NC_000004.11:g.12579765T>C , CM000666.1:g.12579765T>C GRCh37
NC_000004.10:g.12188863T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_925406.1:n.106+31201A>G
XR_001741374.1:n.254+44514A>G
XR_925406.3:n.140+31201A>G