Canonical Allele Identifier: CA817908504
Gene:

Linked Data

dbSNP Id: rs1485739881
gnomAD v3: 6-11943519-A-G
gnomAD v4: 6-11943519-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.11943519A>G , CM000668.2:g.11943519A>G GRCh38
NC_000006.11:g.11943752A>G , CM000668.1:g.11943752A>G GRCh37
NC_000006.10:g.12051738A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001743976.1:n.348-8016A>G