Canonical Allele Identifier: CA1247519146
Gene:

Linked Data

dbSNP Id: rs1667991937

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.41534686T>G , CM000664.2:g.41534686T>G GRCh38
NC_000002.11:g.41761826T>G , CM000664.1:g.41761826T>G GRCh37
NC_000002.10:g.41615330T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_939996.1:n.181+3040A>C
XR_939997.1:n.146+3040A>C
XR_939997.2:n.9529+3040A>C