Canonical Allele Identifier: CA2604236452
Gene:

Linked Data

dbSNP Id: rs1409407156
gnomAD v3: 8-122396096-T-G
gnomAD v4: 8-122396096-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.122396096T>G , CM000670.2:g.122396096T>G GRCh38
NC_000008.10:g.123408335T>G , CM000670.1:g.123408335T>G GRCh37
NC_000008.9:g.123477516T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928599.1:n.152+3076A>C
XR_928599.3:n.152+3076A>C
Search 100 bp 5'
Search 100 bp 3'