Canonical Allele Identifier: CA1122483554
Gene:

Linked Data

dbSNP Id: rs1819675452
gnomAD v3: 9-25551337-T-C
gnomAD v4: 9-25551337-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.25551337T>C , CM000671.2:g.25551337T>C GRCh38
NC_000009.11:g.25551335T>C , CM000671.1:g.25551335T>C GRCh37
NC_000009.10:g.25541335T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_929525.1:n.50-765A>G
XR_929525.2:n.674-765A>G
Search 100 bp 5'
Search 100 bp 3'