Canonical Allele Identifier: CA43588634
Gene:

Linked Data

dbSNP Id: rs962410966
gnomAD v3: 2-17844034-C-T
gnomAD v4: 2-17844034-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.17844034C>T , CM000664.2:g.17844034C>T GRCh38
NC_000002.11:g.18025301C>T , CM000664.1:g.18025301C>T GRCh37
NC_000002.10:g.17888782C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_939764.2:n.447+3660G>A