Canonical Allele Identifier: CA246846046
Gene:

Linked Data

dbSNP Id: rs11617488
gnomAD v2: 13-22193962-A-G
gnomAD v3: 13-21619823-A-G
gnomAD v4: 13-21619823-A-G
MyVariant Identifiers: chr13:g.22193962A>G (hg19) chr13:g.21619823A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.21619823A>G , CM000675.2:g.21619823A>G GRCh38
NC_000013.10:g.22193962A>G , CM000675.1:g.22193962A>G GRCh37
NC_000013.9:g.21091962A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001749772.1:n.321+2650A>G
XR_001749773.1:n.321+2650A>G
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