Canonical Allele Identifier: CA1035797152
Gene:

Linked Data

gnomAD v3: 2-122379248-C-T
gnomAD v4: 2-122379248-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.122379248C>T , CM000664.2:g.122379248C>T GRCh38
NC_000002.11:g.123136824C>T , CM000664.1:g.123136824C>T GRCh37
NC_000002.10:g.122853294C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_923278.1:n.556-13715C>T
XR_001739684.1:n.556-13715C>T
Search 100 bp 5'
Search 100 bp 3'