Canonical Allele Identifier: CA704082171
Gene:

Linked Data

dbSNP Id: rs1371135382

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20793431C>G , CM000676.2:g.20793431C>G GRCh38
NC_000014.8:g.21261590C>G , CM000676.1:g.21261590C>G GRCh37
NC_000014.7:g.20331430C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943584.1:n.585+645C>G
XR_943585.1:n.585+645C>G
XR_001750620.1:n.3271+645C>G
XR_001750621.1:n.3271+645C>G
XR_001750622.1:n.637+6473G>C
XR_001750623.1:n.637+6473G>C
XR_001750624.1:n.637+6473G>C