Canonical Allele Identifier: CA1066140519
Gene:

Linked Data

dbSNP Id: rs1738890843
gnomAD v3: 4-102499911-G-A
gnomAD v4: 4-102499911-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102499911G>A , CM000666.2:g.102499911G>A GRCh38
NC_000004.11:g.103421068G>A , CM000666.1:g.103421068G>A GRCh37
NC_000004.10:g.103640100G>A NCBI36
NG_050628.1:g.3583G>A

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.643+1338C>T XP_011530769.1:n.643+1338C>T
NR_136202.1:n.48+2528C>T
Search 100 bp 5'
Search 100 bp 3'