Canonical Allele Identifier: CA1021127329
Gene:

Linked Data

dbSNP Id: rs1981478171
gnomAD v3: 21-22259300-T-C
gnomAD v4: 21-22259300-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.22259300T>C , CM000683.2:g.22259300T>C GRCh38
NC_000021.8:g.23631620T>C , CM000683.1:g.23631620T>C GRCh37
NC_000021.7:g.22553491T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001754978.1:n.221+46487T>C
Search 100 bp 5'
Search 100 bp 3'