Canonical Allele Identifier: CA568619311
Gene:

Linked Data

dbSNP Id: rs1471318799
gnomAD v2: 6-95967343-A-G
gnomAD v3: 6-95519467-A-G
gnomAD v4: 6-95519467-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.95519467A>G , CM000668.2:g.95519467A>G GRCh38
NC_000006.11:g.95967343A>G , CM000668.1:g.95967343A>G GRCh37
NC_000006.10:g.96074064A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_942795.1:n.99T>C