Canonical Allele Identifier: CA1092248837
Gene:

Linked Data

dbSNP Id: rs760468176
gnomAD v3: 6-98014732-C-G
gnomAD v4: 6-98014732-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98014732C>G , CM000668.2:g.98014732C>G GRCh38
NC_000006.11:g.98462608C>G , CM000668.1:g.98462608C>G GRCh37
NC_000006.10:g.98569329C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_245563.2:n.371+45266C>G
XR_942809.1:n.371+45266C>G