Canonical Allele Identifier: CA1108522475
Gene:

Linked Data

dbSNP Id: rs1795951736
gnomAD v3: 7-148561020-T-G
gnomAD v4: 7-148561020-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148561020T>G , CM000669.2:g.148561020T>G GRCh38
NC_000007.13:g.148258112T>G , CM000669.1:g.148258112T>G GRCh37
NC_000007.12:g.147889045T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928099.1:n.300+7080A>C
XR_928100.1:n.433+7080A>C
Search 100 bp 5'
Search 100 bp 3'