Canonical Allele Identifier: CA2601849710
Gene:

Linked Data

dbSNP Id: rs2127980511
gnomAD v3: 6-98102463-T-A
gnomAD v4: 6-98102463-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98102463T>A , CM000668.2:g.98102463T>A GRCh38
NC_000006.11:g.98550339T>A , CM000668.1:g.98550339T>A GRCh37
NC_000006.10:g.98657060T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245563.2:n.456+3193T>A
XR_942809.1:n.456+3193T>A
Search 100 bp 5'
Search 100 bp 3'