Canonical Allele Identifier: CA856573991
Gene:

Linked Data

dbSNP Id: rs1486871690
gnomAD v3: 8-88981169-C-T
gnomAD v4: 8-88981169-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.88981169C>T , CM000670.2:g.88981169C>T GRCh38
NC_000008.10:g.89993398C>T , CM000670.1:g.89993398C>T GRCh37
NC_000008.9:g.90062514C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_002956667.1:n.179-99108G>A