Canonical Allele Identifier: CA16341996
Gene:

Linked Data

dbSNP Id: rs10429371
gnomAD v2: 8-89993488-C-T
gnomAD v3: 8-88981259-C-T
gnomAD v4: 8-88981259-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.88981259C>T , CM000670.2:g.88981259C>T GRCh38
NC_000008.10:g.89993488C>T , CM000670.1:g.89993488C>T GRCh37
NC_000008.9:g.90062604C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_002956667.1:n.179-99198G>A