Canonical Allele Identifier: CA16139842
Gene:

Linked Data

dbSNP Id: rs10514688
gnomAD v2: 3-34962669-T-C
gnomAD v3: 3-34921177-T-C
gnomAD v4: 3-34921177-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.34921177T>C , CM000665.2:g.34921177T>C GRCh38
NC_000003.11:g.34962669T>C , CM000665.1:g.34962669T>C GRCh37
NC_000003.10:g.34937673T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_110817.1:n.207-41711A>G