Canonical Allele Identifier: CA1092248767
Gene:

Linked Data

dbSNP Id: rs1772155553
gnomAD v3: 6-98014462-C-A
gnomAD v4: 6-98014462-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98014462C>A , CM000668.2:g.98014462C>A GRCh38
NC_000006.11:g.98462338C>A , CM000668.1:g.98462338C>A GRCh37
NC_000006.10:g.98569059C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245563.2:n.371+44996C>A
XR_942809.1:n.371+44996C>A
Search 100 bp 5'
Search 100 bp 3'