Canonical Allele Identifier: CA127232080
Gene:

Linked Data

dbSNP Id: rs891212817
gnomAD v2: 5-125338556-C-A
gnomAD v3: 5-126002863-C-A
gnomAD v4: 5-126002863-C-A
MyVariant Identifiers: chr5:g.125338556C>A (hg19) chr5:g.126002863C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126002863C>A , CM000667.2:g.126002863C>A GRCh38
NC_000005.9:g.125338556C>A , CM000667.1:g.125338556C>A GRCh37
NC_000005.8:g.125366455C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948737.1:n.565+3477G>T
XR_948738.1:n.497+5677G>T
Search 100 bp 5'
Search 100 bp 3'