Canonical Allele Identifier: CA419702495
Gene: RSBN1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.113812320T>A
GRCh37 chr1:g.114354942T>A
gnomAD v2:
1:114354942 T / A
gnomAD v3:
1:113812320 T / A
gnomAD v4:
chr1-113812320-T-A
Joint Max Group AF 0.00002746 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00002743 (NFE)
dbSNP:
3789604
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113812320T>A , CM000663.2:g.113812320T>A GRCh38
NC_000001.10:g.114354942T>A , CM000663.1:g.114354942T>A GRCh37
NC_000001.9:g.114156465T>A NCBI36
NG_011432.1:g.64434A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261441.9:c.93A>T MANE Select ENSP00000261441.5:p.Arg31=
ENST00000612242.4:c.93A>T ENSP00000479490.1:p.Arg31=
NM_018364.4:c.93A>T NP_060834.2:p.Arg31=
NR_130896.1:n.157A>T
XM_017001518.2:c.93A>T XP_016857007.1:p.Arg31=
NM_018364.5:c.93A>T MANE Select NP_060834.2:p.Arg31=
NR_130896.2:n.157A>T
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