Canonical Allele Identifier: CA1014783662
Gene:

Linked Data

dbSNP Id: rs17173287
gnomAD v3: 20-2470973-C-G
gnomAD v4: 20-2470973-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470973C>G , CM000682.2:g.2470973C>G GRCh38
NC_000020.10:g.2451619C>G , CM000682.1:g.2451619C>G GRCh37
NC_000020.9:g.2399619C>G NCBI36
NG_042057.1:g.4881G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000461548.1:c.305-3215G>C ENSP00000456213.1:n.305-3215G>C
Search 100 bp 5'
Search 100 bp 3'