Canonical Allele Identifier: CA9579028
Gene: RRAS HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.49636663C>T
GRCh37 chr19:g.50139920C>T
Revel Score:
ENST00000246792 (MANE Select) 0.220
gnomAD v2:
19:50139920 C / T
gnomAD v3:
19:49636663 C / T
gnomAD v4:
chr19-49636663-C-T
Joint Max Group AF 0.0000604 (NFE)
Genomes Max Group AF 0.00005843 (NFE)
Exomes Max Group AF 0.0000571 (NFE)
ClinVar RCV:
RCV000632776
RCV001174918
ClinVar Variation:
527789
dbSNP:
757080959
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49636663C>T , CM000681.2:g.49636663C>T GRCh38
NC_000019.9:g.50139920C>T , CM000681.1:g.50139920C>T GRCh37
NC_000019.8:g.54831732C>T NCBI36
NG_042222.1:g.8481G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000246792.4:c.409G>A MANE Select ENSP00000246792.2:p.Val137Ile
ENST00000246792.3:c.409G>A ENSP00000246792.2:p.Val137Ile
ENST00000601532.1:n.549G>A
NM_006270.3:c.409G>A NP_006261.1:p.Val137Ile
NM_006270.4:c.409G>A NP_006261.1:p.Val137Ile
NM_006270.5:c.409G>A MANE Select NP_006261.1:p.Val137Ile
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