Canonical Allele Identifier: CA692339970
Gene:

Linked Data

dbSNP Id: rs1206918182
gnomAD v3: 12-80069368-G-A
gnomAD v4: 12-80069368-G-A
MyVariant Identifiers: chr12:g.80463148G>A (hg19) chr12:g.80069368G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80069368G>A , CM000674.2:g.80069368G>A GRCh38
NC_000012.11:g.80463148G>A , CM000674.1:g.80463148G>A GRCh37
NC_000012.10:g.78987279G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_945140.1:n.456+8186G>A
XR_945141.1:n.1758+8186G>A
Search 100 bp 5'
Search 100 bp 3'