Canonical Allele Identifier: CA1649498115
Gene:

Linked Data

dbSNP Id: rs1772155950
gnomAD v3: 6-98014512-T-C
gnomAD v4: 6-98014512-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98014512T>C , CM000668.2:g.98014512T>C GRCh38
NC_000006.11:g.98462388T>C , CM000668.1:g.98462388T>C GRCh37
NC_000006.10:g.98569109T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245563.2:n.371+45046T>C
XR_942809.1:n.371+45046T>C
Search 100 bp 5'
Search 100 bp 3'