Canonical Allele Identifier: CA154890378
Gene:

Linked Data

dbSNP Id: rs566435799
gnomAD v3: 7-17957958-T-G
gnomAD v4: 7-17957958-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.17957958T>G , CM000669.2:g.17957958T>G GRCh38
NC_000007.13:g.17997581T>G , CM000669.1:g.17997581T>G GRCh37
NC_000007.12:g.17964106T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_927078.1:n.271-712T>G