Canonical Allele Identifier: CA2600324555
Gene:

Linked Data

dbSNP Id: rs2110343156
gnomAD v3: 4-74304462-A-C
gnomAD v4: 4-74304462-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.74304462A>C , CM000666.2:g.74304462A>C GRCh38
NC_000004.11:g.75170179A>C , CM000666.1:g.75170179A>C GRCh37
NC_000004.10:g.75389043A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938877.1:n.120-25684T>G
XR_938877.2:n.126-25684T>G
Search 100 bp 5'
Search 100 bp 3'