Canonical Allele Identifier: CA810665232
Gene:

Linked Data

dbSNP Id: rs1330981705
gnomAD v3: 5-41107416-T-C
gnomAD v4: 5-41107416-T-C
MyVariant Identifiers: chr5:g.41107518T>C (hg19) chr5:g.41107416T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.41107416T>C , CM000667.2:g.41107416T>C GRCh38
NC_000005.9:g.41107518T>C , CM000667.1:g.41107518T>C GRCh37
NC_000005.8:g.41143275T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_925944.1:n.618-5212T>C
XR_925945.1:n.125-5212T>C
XR_925946.1:n.576-5212T>C
XR_925948.1:n.618-5212T>C
XR_001742650.1:n.618-5212T>C
XR_001742651.1:n.131-5212T>C
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