Canonical Allele Identifier: CA12814277
Gene: SBSPON HGNC NCBI

Linked Data

dbSNP Id: rs12677663
gnomAD v2: 8-74007347-G-T
gnomAD v3: 8-73095112-G-T
gnomAD v4: 8-73095112-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.73095112G>T , CM000670.2:g.73095112G>T GRCh38
NC_000008.10:g.74007347G>T , CM000670.1:g.74007347G>T GRCh37
NC_000008.9:g.74169901G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000519697.1:n.583-13899C>A