Canonical Allele Identifier: CA949647999
Gene:

Linked Data

dbSNP Id: rs1868335833
gnomAD v3: 12-80069316-G-T
gnomAD v4: 12-80069316-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80069316G>T , CM000674.2:g.80069316G>T GRCh38
NC_000012.11:g.80463096G>T , CM000674.1:g.80463096G>T GRCh37
NC_000012.10:g.78987227G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_945140.1:n.456+8134G>T
XR_945141.1:n.1758+8134G>T
Search 100 bp 5'
Search 100 bp 3'