Canonical Allele Identifier: CA1697903984
Gene:

Linked Data

dbSNP Id: rs1791160856
gnomAD v4: 7-30911550-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30911550G>A , CM000669.2:g.30911550G>A GRCh38
NC_000007.13:g.30951165G>A , CM000669.1:g.30951165G>A GRCh37
NC_000007.12:g.30917690G>A NCBI36
NG_007475.2:g.63157G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000509504.2:c.622-443G>A
Search 100 bp 5'
Search 100 bp 3'