Canonical Allele Identifier: CA803406465
Gene:

Linked Data

dbSNP Id: rs1482778260
gnomAD v3: 5-126002930-C-T
gnomAD v4: 5-126002930-C-T
MyVariant Identifiers: chr5:g.125338623C>T (hg19) chr5:g.126002930C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126002930C>T , CM000667.2:g.126002930C>T GRCh38
NC_000005.9:g.125338623C>T , CM000667.1:g.125338623C>T GRCh37
NC_000005.8:g.125366522C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948737.1:n.565+3410G>A
XR_948738.1:n.497+5610G>A
Search 100 bp 5'
Search 100 bp 3'