Canonical Allele Identifier: CA1247519120
Gene:

Linked Data

dbSNP Id: rs1667991495

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.41534652G>A , CM000664.2:g.41534652G>A GRCh38
NC_000002.11:g.41761792G>A , CM000664.1:g.41761792G>A GRCh37
NC_000002.10:g.41615296G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939996.1:n.181+3074C>T
XR_939997.1:n.146+3074C>T
XR_939997.2:n.9529+3074C>T