Canonical Allele Identifier: CA857362235
Gene:

Linked Data

dbSNP Id: rs1435677764
gnomAD v3: 8-97269751-G-T
gnomAD v4: 8-97269751-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.97269751G>T , CM000670.2:g.97269751G>T GRCh38
NC_000008.10:g.98281979G>T , CM000670.1:g.98281979G>T GRCh37
NC_000008.9:g.98351155G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_125390.1:n.471+149319C>A