Canonical Allele Identifier: CA529297687
Gene:

Linked Data

dbSNP Id: rs1273675504
gnomAD v2: 1-220664980-G-C
gnomAD v3: 1-220491638-G-C
gnomAD v4: 1-220491638-G-C
MyVariant Identifiers: chr1:g.220664980G>C (hg19) chr1:g.220491638G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220491638G>C , CM000663.2:g.220491638G>C GRCh38
NC_000001.10:g.220664980G>C , CM000663.1:g.220664980G>C GRCh37
NC_000001.9:g.218731603G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_922615.1:n.256-596G>C
XR_001737822.1:n.557-596G>C
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