Canonical Allele Identifier: CA1035793751
Gene:

Linked Data

dbSNP Id: rs1678949969
gnomAD v3: 2-122369112-G-A
gnomAD v4: 2-122369112-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.122369112G>A , CM000664.2:g.122369112G>A GRCh38
NC_000002.11:g.123126688G>A , CM000664.1:g.123126688G>A GRCh37
NC_000002.10:g.122843158G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_923278.1:n.556-23851G>A
XR_001739684.1:n.556-23851G>A
Search 100 bp 5'
Search 100 bp 3'