Canonical Allele Identifier: CA1108262355
Gene:

Linked Data

dbSNP Id: rs184900256
gnomAD v3: 7-145144349-T-C
gnomAD v4: 7-145144349-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.145144349T>C , CM000669.2:g.145144349T>C GRCh38
NC_000007.13:g.144841442T>C , CM000669.1:g.144841442T>C GRCh37
NC_000007.12:g.144472375T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_928090.1:n.1968-12586T>C
XR_928090.2:n.4143-12586T>C
Search 100 bp 5'
Search 100 bp 3'