Canonical Allele Identifier: CA71848693
Gene: RBMS3 HGNC NCBI
LINC00693 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.28678635C>G
GRCh37 chr3:g.28720126C>G
gnomAD v3:
3:28678635 C / G
gnomAD v4:
chr3-28678635-C-G
Joint Max Group AF 0.00000488 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
dbSNP:
17651822
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.28678635C>G , CM000665.2:g.28678635C>G GRCh38
NC_000003.11:g.28720126C>G , CM000665.1:g.28720126C>G GRCh37
NC_000003.10:g.28695130C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000432518.6:n.810-78123C>G
ENST00000443912.5:n.87-57374C>G
ENST00000445077.1:n.70-78474C>G
ENST00000635992.1:c.*339+102139C>G ENSP00000489994.1:n.*339+102139C>G
ENST00000636680.2:c.213+102139C>G (RBMS3) ENSP00000490271.2:n.213+102139C>G
NR_038840.1:n.323-78123C>G (LINC00693)
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