Canonical Allele Identifier: CA1092269794
Gene:

Linked Data

dbSNP Id: rs1421599191
gnomAD v3: 6-98102387-G-C
gnomAD v4: 6-98102387-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98102387G>C , CM000668.2:g.98102387G>C GRCh38
NC_000006.11:g.98550263G>C , CM000668.1:g.98550263G>C GRCh37
NC_000006.10:g.98656984G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245563.2:n.456+3117G>C
XR_942809.1:n.456+3117G>C
Search 100 bp 5'
Search 100 bp 3'