Canonical Allele Identifier: CA928817945
Gene:

Linked Data

dbSNP Id: rs1839462121
gnomAD v3: 10-57812915-T-C
gnomAD v4: 10-57812915-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.57812915T>C , CM000672.2:g.57812915T>C GRCh38
NC_000010.10:g.59572675T>C , CM000672.1:g.59572675T>C GRCh37
NC_000010.9:g.59242681T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_945979.1:n.68+34377A>G
XR_001747454.1:n.85+34377A>G
Search 100 bp 5'
Search 100 bp 3'