Canonical Allele Identifier: CA1247519009
Gene:

Linked Data

dbSNP Id: rs1667989419

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.41534496A>G , CM000664.2:g.41534496A>G GRCh38
NC_000002.11:g.41761636A>G , CM000664.1:g.41761636A>G GRCh37
NC_000002.10:g.41615140A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939996.1:n.181+3230T>C
XR_939997.1:n.146+3230T>C
XR_939997.2:n.9529+3230T>C