Canonical Allele Identifier: CA994935968
Gene:

Linked Data

dbSNP Id: rs2011163804
gnomAD v3: 19-28544469-T-C
gnomAD v4: 19-28544469-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.28544469T>C , CM000681.2:g.28544469T>C GRCh38
NC_000019.9:g.29035376T>C , CM000681.1:g.29035376T>C GRCh37
NC_000019.8:g.33727216T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_110759.1:n.657-77689A>G
XR_243979.1:n.110-51446A>G
Search 100 bp 5'
Search 100 bp 3'