Canonical Allele Identifier: CA977151036
Gene:

Linked Data

dbSNP Id: rs1961467481
gnomAD v3: 16-49108643-T-C
gnomAD v4: 16-49108643-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108643T>C , CM000678.2:g.49108643T>C GRCh38
NC_000016.9:g.49142554T>C , CM000678.1:g.49142554T>C GRCh37
NC_000016.8:g.47700055T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_933517.1:n.810+1301A>G
XR_001752138.2:n.591+5333A>G
XR_933517.2:n.810+1301A>G
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