Canonical Allele Identifier: CA2673912761
Gene:

Linked Data

gnomAD v4: 5-56899986-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56899986G>T , CM000667.2:g.56899986G>T GRCh38
NC_000005.9:g.56195813G>T , CM000667.1:g.56195813G>T GRCh37
NC_000005.8:g.56231570G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_948346.1:n.83-1690C>A
XR_948347.1:n.76+11C>A
XR_948347.3:n.406+11C>A
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