Canonical Allele Identifier: CA36160717
Gene:

Linked Data

dbSNP Id: rs10922438
gnomAD v2: 1-198469162-G-A
gnomAD v3: 1-198500032-G-A
gnomAD v4: 1-198500032-G-A
MyVariant Identifiers: chr1:g.198469162G>A (hg19) chr1:g.198500032G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.198500032G>A , CM000663.2:g.198500032G>A GRCh38
NC_000001.10:g.198469162G>A , CM000663.1:g.198469162G>A GRCh37
NC_000001.9:g.196735785G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_922398.1:n.679+19519C>T
XR_922398.2:n.341+19519C>T
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