Canonical Allele Identifier: CA1496030189
Gene:

Linked Data

dbSNP Id: rs1578687541
gnomAD v3: 4-134601602-G-C
gnomAD v4: 4-134601602-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134601602G>C , CM000666.2:g.134601602G>C GRCh38
NC_000004.11:g.135522757G>C , CM000666.1:g.135522757G>C GRCh37
NC_000004.10:g.135742207G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_939212.1:n.410+14243G>C
XR_939214.1:n.392+14243G>C
XR_939214.2:n.392+14243G>C
Search 100 bp 5'
Search 100 bp 3'