Canonical Allele Identifier: CA2595183511
Gene:

Linked Data

dbSNP Id: rs2137070013
gnomAD v3: 12-40373597-G-T
gnomAD v4: 12-40373597-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40373597G>T , CM000674.2:g.40373597G>T GRCh38
NC_000012.11:g.40767399G>T , CM000674.1:g.40767399G>T GRCh37
NC_000012.10:g.39053666G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_944868.1:n.485-18770C>A
XR_944869.1:n.485-1545C>A
XR_001749087.1:n.380-1545C>A
XR_001749088.1:n.347-1545C>A
XR_944868.2:n.485-18770C>A
XR_944869.2:n.485-1545C>A
Search 100 bp 5'
Search 100 bp 3'