Canonical Allele Identifier: CA1028006326
Gene:

Linked Data

dbSNP Id: rs1673966447
gnomAD v3: 2-17843919-T-C
gnomAD v4: 2-17843919-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.17843919T>C , CM000664.2:g.17843919T>C GRCh38
NC_000002.11:g.18025186T>C , CM000664.1:g.18025186T>C GRCh37
NC_000002.10:g.17888667T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_939764.2:n.447+3775A>G
Search 100 bp 5'
Search 100 bp 3'