Canonical Allele Identifier: CA1439213003
Gene:

Linked Data

dbSNP Id: rs538594494

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.12578387C>G , CM000666.2:g.12578387C>G GRCh38
NC_000004.11:g.12580011C>G , CM000666.1:g.12580011C>G GRCh37
NC_000004.10:g.12189109C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_925406.1:n.106+30955G>C
XR_001741374.1:n.254+44268G>C
XR_925406.3:n.140+30955G>C