Canonical Allele Identifier: CA125576040
Gene:

Linked Data

dbSNP Id: rs2016167
gnomAD v2: 5-113050591-G-T
gnomAD v3: 5-113714894-G-T
gnomAD v4: 5-113714894-G-T
MyVariant Identifiers: chr5:g.113050591G>T (hg19) chr5:g.113714894G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.113714894G>T , CM000667.2:g.113714894G>T GRCh38
NC_000005.9:g.113050591G>T , CM000667.1:g.113050591G>T GRCh37
NC_000005.8:g.113078490G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001742840.1:n.153-18667G>T
Search 100 bp 5'
Search 100 bp 3'