Canonical Allele Identifier: CA565609297
Gene:

Linked Data

dbSNP Id: rs1202735737
gnomAD v2: 6-11943907-G-A
gnomAD v3: 6-11943674-G-A
gnomAD v4: 6-11943674-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.11943674G>A , CM000668.2:g.11943674G>A GRCh38
NC_000006.11:g.11943907G>A , CM000668.1:g.11943907G>A GRCh37
NC_000006.10:g.12051893G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001743976.1:n.348-7861G>A