Canonical Allele Identifier: CA949647974
Gene:

Linked Data

dbSNP Id: rs1868335482
gnomAD v3: 12-80069241-T-C
gnomAD v4: 12-80069241-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80069241T>C , CM000674.2:g.80069241T>C GRCh38
NC_000012.11:g.80463021T>C , CM000674.1:g.80463021T>C GRCh37
NC_000012.10:g.78987152T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_945140.1:n.456+8059T>C
XR_945141.1:n.1758+8059T>C
Search 100 bp 5'
Search 100 bp 3'