Canonical Allele Identifier: CA1092248969
Gene:

Linked Data

dbSNP Id: rs1772158929
gnomAD v3: 6-98014825-A-C
gnomAD v4: 6-98014825-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98014825A>C , CM000668.2:g.98014825A>C GRCh38
NC_000006.11:g.98462701A>C , CM000668.1:g.98462701A>C GRCh37
NC_000006.10:g.98569422A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245563.2:n.371+45359A>C
XR_942809.1:n.371+45359A>C
Search 100 bp 5'
Search 100 bp 3'