Canonical Allele Identifier: CA130919451
Gene:

Linked Data

dbSNP Id: rs2277920
gnomAD v2: 5-159895705-T-C
gnomAD v3: 5-160468698-T-C
gnomAD v4: 5-160468698-T-C
MyVariant Identifiers: chr5:g.159895705T>C (hg19) chr5:g.160468698T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.160468698T>C , CM000667.2:g.160468698T>C GRCh38
NC_000005.9:g.159895705T>C , CM000667.1:g.159895705T>C GRCh37
NC_000005.8:g.159828283T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_132748.1:n.190+258T>C
Search 100 bp 5'
Search 100 bp 3'