Canonical Allele Identifier: CA1557963444
Gene:

Linked Data

dbSNP Id: rs1753647672
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79549994T>C , CM000667.2:g.79549994T>C GRCh38
NC_000005.9:g.78845817T>C , CM000667.1:g.78845817T>C GRCh37
NC_000005.8:g.78881573T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948497.1:n.72+2350T>C
XR_948498.1:n.159+2157T>C
XR_948499.1:n.67+1692T>C
XR_948497.2:n.72+2350T>C
XR_948498.2:n.159+2157T>C
XR_948499.2:n.225+1692T>C
Search 100 bp 5'
Search 100 bp 3'