Canonical Allele Identifier: CA1085752600
Gene:

Linked Data

dbSNP Id: rs1759190205
gnomAD v3: 6-8169448-T-C
gnomAD v4: 6-8169448-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8169448T>C , CM000668.2:g.8169448T>C GRCh38
NC_000006.11:g.8169681T>C , CM000668.1:g.8169681T>C GRCh37
NC_000006.10:g.8114680T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.82+11188T>C
XR_926441.1:n.189+1528T>C
XR_926442.1:n.82+11188T>C
XR_926443.1:n.82+11188T>C
XR_001743950.1:n.179+1528T>C
XR_926440.2:n.74+11188T>C
XR_926441.2:n.179+1528T>C
XR_926443.2:n.83+11188T>C
Search 100 bp 5'
Search 100 bp 3'