Canonical Allele Identifier: CA154151479
Gene:

Linked Data

dbSNP Id: rs1052991585
gnomAD v2: 7-10706822-T-G
gnomAD v3: 7-10667195-T-G
gnomAD v4: 7-10667195-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.10667195T>G , CM000669.2:g.10667195T>G GRCh38
NC_000007.13:g.10706822T>G , CM000669.1:g.10706822T>G GRCh37
NC_000007.12:g.10673347T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_147499.1:n.64-105618A>C
XR_001745090.1:n.376-8101T>G