Canonical Allele Identifier: CA562263257
Gene:

Linked Data

dbSNP Id: rs1378827501
gnomAD v2: 5-125338530-A-G
gnomAD v3: 5-126002837-A-G
gnomAD v4: 5-126002837-A-G
MyVariant Identifiers: chr5:g.125338530A>G (hg19) chr5:g.126002837A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126002837A>G , CM000667.2:g.126002837A>G GRCh38
NC_000005.9:g.125338530A>G , CM000667.1:g.125338530A>G GRCh37
NC_000005.8:g.125366429A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948737.1:n.565+3503T>C
XR_948738.1:n.497+5703T>C
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