Canonical Allele Identifier: CA121722110

Gene:

Linked Data

• dbSNP Id: rs184168184
• gnomAD v2: 5-78845702-T-C
• gnomAD v3: 5-79549879-T-C
• gnomAD v4: 5-79549879-T-C
• MyVariant Identifiers: chr5:g.78845702T>C (hg19) ; chr5:g.79549879T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79549879T>C , CM000667.2:g.79549879T>C	GRCh38
NC_000005.9:g.78845702T>C , CM000667.1:g.78845702T>C	GRCh37
NC_000005.8:g.78881458T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948497.1:n.72+2235T>C
XR_948498.1:n.159+2042T>C
XR_948499.1:n.67+1577T>C
XR_948497.2:n.72+2235T>C
XR_948498.2:n.159+2042T>C
XR_948499.2:n.225+1577T>C