Canonical Allele Identifier: CA1057687651
Gene:

Linked Data

dbSNP Id: rs1715912596
gnomAD v3: 3-190286444-T-C
gnomAD v4: 3-190286444-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190286444T>C , CM000665.2:g.190286444T>C GRCh38
NC_000003.11:g.190004233T>C , CM000665.1:g.190004233T>C GRCh37
NC_000003.10:g.191486927T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001741069.1:n.89-4034T>C
Search 100 bp 5'
Search 100 bp 3'