Canonical Allele Identifier: CA943473400
Gene:

Linked Data

dbSNP Id: rs1943910818
gnomAD v3: 11-128870909-G-A
gnomAD v4: 11-128870909-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128870909G>A , CM000673.2:g.128870909G>A GRCh38
NC_000011.9:g.128740804G>A , CM000673.1:g.128740804G>A GRCh37
NC_000011.8:g.128246014G>A NCBI36
NG_009379.1:g.1465C>T

Transcript Alleles

HGVS Amino-acid Change
XR_948172.1:n.6002C>T
XR_948173.1:n.5691C>T
Search 100 bp 5'
Search 100 bp 3'