Canonical Allele Identifier: CA948824363
Gene:

Linked Data

dbSNP Id: rs1351583429
gnomAD v3: 12-68248052-G-C
gnomAD v4: 12-68248052-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.68248052G>C , CM000674.2:g.68248052G>C GRCh38
NC_000012.11:g.68641832G>C , CM000674.1:g.68641832G>C GRCh37
NC_000012.10:g.66928099G>C NCBI36
NG_060763.1:g.10553C>G

Transcript Alleles

HGVS Amino-acid change
XR_945055.1:n.265-16606G>C
XR_002957418.1:n.281-16606G>C
Search 100 bp 5'
Search 100 bp 3'