Canonical Allele Identifier: CA1028006366
Gene:

Linked Data

dbSNP Id: rs1673969469
gnomAD v3: 2-17844009-T-C
gnomAD v4: 2-17844009-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.17844009T>C , CM000664.2:g.17844009T>C GRCh38
NC_000002.11:g.18025276T>C , CM000664.1:g.18025276T>C GRCh37
NC_000002.10:g.17888757T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_939764.2:n.447+3685A>G