Canonical Allele Identifier: CA994936060
Gene:

Linked Data

dbSNP Id: rs2011165367
gnomAD v3: 19-28544796-G-A
gnomAD v4: 19-28544796-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.28544796G>A , CM000681.2:g.28544796G>A GRCh38
NC_000019.9:g.29035703G>A , CM000681.1:g.29035703G>A GRCh37
NC_000019.8:g.33727543G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_110759.1:n.657-78016C>T
XR_243979.1:n.110-51773C>T
Search 100 bp 5'
Search 100 bp 3'