Canonical Allele Identifier: CA1059429951
Gene:

Linked Data

dbSNP Id: rs1017028097
gnomAD v3: 4-12578100-G-A
gnomAD v4: 4-12578100-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.12578100G>A , CM000666.2:g.12578100G>A GRCh38
NC_000004.11:g.12579724G>A , CM000666.1:g.12579724G>A GRCh37
NC_000004.10:g.12188822G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_925406.1:n.106+31242C>T
XR_001741374.1:n.254+44555C>T
XR_925406.3:n.140+31242C>T
Search 100 bp 5'
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