Canonical Allele Identifier: CA988943641
Gene:

Linked Data

dbSNP Id: rs2031430748
gnomAD v3: 18-31756471-G-A
gnomAD v4: 18-31756471-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31756471G>A , CM000680.2:g.31756471G>A GRCh38
NC_000018.9:g.29336434G>A , CM000680.1:g.29336434G>A GRCh37
NC_000018.8:g.27590432G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_935338.1:n.66-5668G>A
Search 100 bp 5'
Search 100 bp 3'