Canonical Allele Identifier: CA909017073
Gene:

Linked Data

dbSNP Id: rs1180020878
gnomAD v3: 3-61427970-C-G
gnomAD v4: 3-61427970-C-G
MyVariant Identifiers: chr3:g.61413644C>G (hg19) chr3:g.61427970C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.61427970C>G , CM000665.2:g.61427970C>G GRCh38
NC_000003.11:g.61413644C>G , CM000665.1:g.61413644C>G GRCh37
NC_000003.10:g.61388684C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_940892.1:n.165-284G>C
XR_940893.1:n.164+544G>C
XR_001740725.1:n.202+544G>C
XR_940892.2:n.203-284G>C
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