Canonical Allele Identifier: CA310850154
Gene: SNRPB HGNC NCBI

Linked Data

dbSNP Id: rs964920012
gnomAD v2: 20-2451497-G-C
gnomAD v3: 20-2470851-G-C
gnomAD v4: 20-2470851-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470851G>C , CM000682.2:g.2470851G>C GRCh38
NC_000020.10:g.2451497G>C , CM000682.1:g.2451497G>C GRCh37
NC_000020.9:g.2399497G>C NCBI36
NG_042057.1:g.5003C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381342.6:c.-161C>G ENSP00000370746.2:n.-161C>G
ENST00000438552.6:c.-161C>G ENSP00000412566.2:n.-161C>G
ENST00000461548.1:c.305-3093C>G ENSP00000456213.1:n.305-3093C>G
NM_003091.3:c.-161C>G NP_003082.1:n.-161C>G
NM_198216.1:c.-161C>G NP_937859.1:n.-161C>G