Canonical Allele Identifier: CA96791881
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs567341122
gnomAD v2: 4-52904575-C-G
gnomAD v3: 4-52038409-C-G
gnomAD v4: 4-52038409-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038409C>G , CM000666.2:g.52038409C>G GRCh38
NC_000004.11:g.52904575C>G , CM000666.1:g.52904575C>G GRCh37
NC_000004.10:g.52599332C>G NCBI36
NG_008891.1:g.4911G>C , LRG_204:g.4911G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.9:c.-150G>C ENSP00000370839.5:n.-150G>C