Canonical Allele Identifier: CA988943642
Gene:

Linked Data

dbSNP Id: rs2031430861
gnomAD v3: 18-31756485-T-C
gnomAD v4: 18-31756485-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31756485T>C , CM000680.2:g.31756485T>C GRCh38
NC_000018.9:g.29336448T>C , CM000680.1:g.29336448T>C GRCh37
NC_000018.8:g.27590446T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_935338.1:n.66-5654T>C
Search 100 bp 5'
Search 100 bp 3'