Canonical Allele Identifier: CA1439212769
Gene:

Linked Data

dbSNP Id: rs1711582688

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.12578139C>T , CM000666.2:g.12578139C>T GRCh38
NC_000004.11:g.12579763C>T , CM000666.1:g.12579763C>T GRCh37
NC_000004.10:g.12188861C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_925406.1:n.106+31203G>A
XR_001741374.1:n.254+44516G>A
XR_925406.3:n.140+31203G>A