Canonical Allele Identifier: CA1950112395
Gene:

Linked Data

dbSNP Id: rs1846759826
gnomAD v4: 11-6318945-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6318945G>C , CM000673.2:g.6318945G>C GRCh38
NC_000011.9:g.6340175G>C , CM000673.1:g.6340175G>C GRCh37
NC_000011.8:g.6296751G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930997.1:n.720+725G>C
Search 100 bp 5'
Search 100 bp 3'