Canonical Allele Identifier: CA15539911
Gene:

Linked Data

dbSNP Id: rs11995572
gnomAD v2: 8-89592083-G-T
gnomAD v3: 8-88579854-G-T
gnomAD v4: 8-88579854-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.88579854G>T , CM000670.2:g.88579854G>T GRCh38
NC_000008.10:g.89592083G>T , CM000670.1:g.89592083G>T GRCh37
NC_000008.9:g.89661199G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_928383.1:n.329+8537C>A
XR_001745651.2:n.1081+8537C>A
XR_001745653.2:n.416+37044G>T
XR_928383.3:n.1081+8537C>A