Canonical Allele Identifier: CA10774012
Gene:

Linked Data

dbSNP Id: rs12122440
gnomAD v2: 1-76477207-A-C
gnomAD v3: 1-76011522-A-C
gnomAD v4: 1-76011522-A-C
MyVariant Identifiers: chr1:g.76477207A>C (hg19) chr1:g.76011522A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.76011522A>C , CM000663.2:g.76011522A>C GRCh38
NC_000001.10:g.76477207A>C , CM000663.1:g.76477207A>C GRCh37
NC_000001.9:g.76249795A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_125939.1:n.75+124A>C
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