Canonical Allele Identifier: CA565609295
Gene:

Linked Data

dbSNP Id: rs1271679770
gnomAD v2: 6-11943829-G-T
gnomAD v3: 6-11943596-G-T
gnomAD v4: 6-11943596-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.11943596G>T , CM000668.2:g.11943596G>T GRCh38
NC_000006.11:g.11943829G>T , CM000668.1:g.11943829G>T GRCh37
NC_000006.10:g.12051815G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001743976.1:n.348-7939G>T