Canonical Allele Identifier: CA15376174
Gene:

Linked Data

dbSNP Id: rs13169113
gnomAD v2: 5-125338475-A-C
gnomAD v3: 5-126002782-A-C
gnomAD v4: 5-126002782-A-C
MyVariant Identifiers: chr5:g.125338475A>C (hg19) chr5:g.126002782A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126002782A>C , CM000667.2:g.126002782A>C GRCh38
NC_000005.9:g.125338475A>C , CM000667.1:g.125338475A>C GRCh37
NC_000005.8:g.125366374A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_948737.1:n.565+3558T>G
XR_948738.1:n.497+5758T>G
Search 100 bp 5'
Search 100 bp 3'