Canonical Allele Identifier: CA14324300
Gene:

Linked Data

dbSNP Id: rs12325410
gnomAD v2: 16-9675246-T-G
gnomAD v3: 16-9581389-T-G
gnomAD v4: 16-9581389-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9581389T>G , CM000678.2:g.9581389T>G GRCh38
NC_000016.9:g.9675246T>G , CM000678.1:g.9675246T>G GRCh37
NC_000016.8:g.9582747T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_429665.2:n.1065+14799T>G
XR_001752073.1:n.1766+14799T>G
XR_001752074.1:n.650+14799T>G
XR_001752075.1:n.740+14799T>G