Canonical Allele Identifier: CA253443564
Gene:

Linked Data

dbSNP Id: rs7981942
gnomAD v3: 13-80049211-A-T
gnomAD v4: 13-80049211-A-T
MyVariant Identifiers: chr13:g.80623346A>T (hg19) chr13:g.80049211A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.80049211A>T , CM000675.2:g.80049211A>T GRCh38
NC_000013.10:g.80623346A>T , CM000675.1:g.80623346A>T GRCh37
NC_000013.9:g.79521347A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_245449.3:n.131+1049T>A
XR_942114.1:n.146+751T>A
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