Canonical Allele Identifier: CA2031042655
Gene:

Linked Data

dbSNP Id: rs773487582
gnomAD v3: 12-40373527-A-G
gnomAD v4: 12-40373527-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40373527A>G , CM000674.2:g.40373527A>G GRCh38
NC_000012.11:g.40767329A>G , CM000674.1:g.40767329A>G GRCh37
NC_000012.10:g.39053596A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_944868.1:n.485-18700T>C
XR_944869.1:n.485-1475T>C
XR_001749087.1:n.380-1475T>C
XR_001749088.1:n.347-1475T>C
XR_944868.2:n.485-18700T>C
XR_944869.2:n.485-1475T>C
Search 100 bp 5'
Search 100 bp 3'