Canonical Allele Identifier: CA565609298
Gene:

Linked Data

dbSNP Id: rs1442318288
gnomAD v2: 6-11943925-T-C
gnomAD v3: 6-11943692-T-C
gnomAD v4: 6-11943692-T-C
MyVariant Identifiers: chr6:g.11943925T>C (hg19) chr6:g.11943692T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.11943692T>C , CM000668.2:g.11943692T>C GRCh38
NC_000006.11:g.11943925T>C , CM000668.1:g.11943925T>C GRCh37
NC_000006.10:g.12051911T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001743976.1:n.348-7843T>C
Search 100 bp 5'
Search 100 bp 3'