Canonical Allele Identifier: CA1035797149
Gene:

Linked Data

dbSNP Id: rs1679097605
gnomAD v3: 2-122379228-G-C
gnomAD v4: 2-122379228-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.122379228G>C , CM000664.2:g.122379228G>C GRCh38
NC_000002.11:g.123136804G>C , CM000664.1:g.123136804G>C GRCh37
NC_000002.10:g.122853274G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_923278.1:n.556-13735G>C
XR_001739684.1:n.556-13735G>C
Search 100 bp 5'
Search 100 bp 3'