Canonical Allele Identifier: CA565609062
Gene:

Linked Data

dbSNP Id: rs1398959025
gnomAD v2: 6-11943603-C-T
gnomAD v3: 6-11943370-C-T
gnomAD v4: 6-11943370-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.11943370C>T , CM000668.2:g.11943370C>T GRCh38
NC_000006.11:g.11943603C>T , CM000668.1:g.11943603C>T GRCh37
NC_000006.10:g.12051589C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001743976.1:n.348-8165C>T