Canonical Allele Identifier: CA14838637
Gene:

Linked Data

dbSNP Id: rs199774
gnomAD v2: 20-22385317-G-A
gnomAD v3: 20-22404679-G-A
gnomAD v4: 20-22404679-G-A
MyVariant Identifiers: chr20:g.22385317G>A (hg19) chr20:g.22404679G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.22404679G>A , CM000682.2:g.22404679G>A GRCh38
NC_000020.10:g.22385317G>A , CM000682.1:g.22385317G>A GRCh37
NC_000020.9:g.22333317G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_027089.2:n.768+1950C>T
NR_027090.1:n.685-3217C>T
Search 100 bp 5'
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