Canonical Allele Identifier: CA2596043602
Gene:

Linked Data

dbSNP Id: rs2117329583
gnomAD v3: 8-33808387-A-G
gnomAD v4: 8-33808387-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.33808387A>G , CM000670.2:g.33808387A>G GRCh38
NC_000008.10:g.33665905A>G , CM000670.1:g.33665905A>G GRCh37
NC_000008.9:g.33785447A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949659.1:n.240+11951A>G
XR_002956701.1:n.240+11951A>G
Search 100 bp 5'
Search 100 bp 3'