Canonical Allele Identifier: CA12262310
Gene:

Linked Data

dbSNP Id: rs1205865
gnomAD v2: 6-11943612-A-G
gnomAD v3: 6-11943379-A-G
gnomAD v4: 6-11943379-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.11943379A>G , CM000668.2:g.11943379A>G GRCh38
NC_000006.11:g.11943612A>G , CM000668.1:g.11943612A>G GRCh37
NC_000006.10:g.12051598A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001743976.1:n.348-8156A>G