Canonical Allele Identifier: CA181599877
Gene:

Linked Data

dbSNP Id: rs889065071
gnomAD v3: 8-88981220-T-C
gnomAD v4: 8-88981220-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.88981220T>C , CM000670.2:g.88981220T>C GRCh38
NC_000008.10:g.89993449T>C , CM000670.1:g.89993449T>C GRCh37
NC_000008.9:g.90062565T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_002956667.1:n.179-99159A>G