Canonical Allele Identifier: CA1086017993
Gene:

Linked Data

dbSNP Id: rs1043465566
gnomAD v3: 6-11943524-C-G
gnomAD v4: 6-11943524-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.11943524C>G , CM000668.2:g.11943524C>G GRCh38
NC_000006.11:g.11943757C>G , CM000668.1:g.11943757C>G GRCh37
NC_000006.10:g.12051743C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001743976.1:n.348-8011C>G