Canonical Allele Identifier: CA552316579
Gene:

Linked Data

dbSNP Id: rs1247251339
gnomAD v2: 4-75170180-C-G
gnomAD v3: 4-74304463-C-G
gnomAD v4: 4-74304463-C-G
MyVariant Identifiers: chr4:g.75170180C>G (hg19) chr4:g.74304463C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.74304463C>G , CM000666.2:g.74304463C>G GRCh38
NC_000004.11:g.75170180C>G , CM000666.1:g.75170180C>G GRCh37
NC_000004.10:g.75389044C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938877.1:n.120-25685G>C
XR_938877.2:n.126-25685G>C
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