Canonical Allele Identifier: CA1004589654
Gene:

Linked Data

dbSNP Id: rs1646185811
gnomAD v3: 1-94564032-T-C
gnomAD v4: 1-94564032-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94564032T>C , CM000663.2:g.94564032T>C GRCh38
NC_000001.10:g.95029588T>C , CM000663.1:g.95029588T>C GRCh37
NC_000001.9:g.94802176T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001738161.1:n.461+419T>C
Search 100 bp 5'
Search 100 bp 3'