Canonical Allele Identifier: CA144309882
Gene:

Linked Data

dbSNP Id: rs867413847
gnomAD v3: 6-98014588-C-G
gnomAD v4: 6-98014588-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98014588C>G , CM000668.2:g.98014588C>G GRCh38
NC_000006.11:g.98462464C>G , CM000668.1:g.98462464C>G GRCh37
NC_000006.10:g.98569185C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245563.2:n.371+45122C>G
XR_942809.1:n.371+45122C>G