Canonical Allele Identifier: CA2605467979
Gene:

Linked Data

dbSNP Id: rs2116864661
gnomAD v3: 7-148560814-G-C
gnomAD v4: 7-148560814-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148560814G>C , CM000669.2:g.148560814G>C GRCh38
NC_000007.13:g.148257906G>C , CM000669.1:g.148257906G>C GRCh37
NC_000007.12:g.147888839G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_928099.1:n.300+7286C>G
XR_928100.1:n.433+7286C>G
Search 100 bp 5'
Search 100 bp 3'