Canonical Allele Identifier: CA562263259
Gene:

Linked Data

dbSNP Id: rs1305370786
gnomAD v2: 5-125338562-G-A
gnomAD v3: 5-126002869-G-A
gnomAD v4: 5-126002869-G-A
MyVariant Identifiers: chr5:g.125338562G>A (hg19) chr5:g.126002869G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126002869G>A , CM000667.2:g.126002869G>A GRCh38
NC_000005.9:g.125338562G>A , CM000667.1:g.125338562G>A GRCh37
NC_000005.8:g.125366461G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948737.1:n.565+3471C>T
XR_948738.1:n.497+5671C>T
Search 100 bp 5'
Search 100 bp 3'