Canonical Allele Identifier: CA812366327
Gene:

Linked Data

dbSNP Id: rs1276739784
gnomAD v4: 5-56899973-C-T
MyVariant Identifiers: chr5:g.56195800C>T (hg19) chr5:g.56899973C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56899973C>T , CM000667.2:g.56899973C>T GRCh38
NC_000005.9:g.56195800C>T , CM000667.1:g.56195800C>T GRCh37
NC_000005.8:g.56231557C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_948346.1:n.83-1677G>A
XR_948347.1:n.76+24G>A
XR_948347.3:n.406+24G>A
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