Canonical Allele Identifier: CA1218752
Gene: RGS5 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.163152698T>C
GRCh37 chr1:g.163122488T>C
Revel Score:
ENST00000313961 (MANE Select) 0.134
ENST00000367903 0.134
ENST00000530507 0.134
ENST00000531476 0.134
gnomAD v2:
1:163122488 T / C
gnomAD v3:
1:163152698 T / C
gnomAD v4:
chr1-163152698-T-C
Joint Max Group AF 0.00030314 (AFR)
Genomes Max Group AF 0.00025991 (AFR)
Exomes Max Group AF 0.00026 (AFR)
ClinVar RCV:
RCV004083289
ClinVar Variation:
2218336
dbSNP:
375964318
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.163152698T>C , CM000663.2:g.163152698T>C GRCh38
NC_000001.10:g.163122488T>C , CM000663.1:g.163122488T>C GRCh37
NC_000001.9:g.161389112T>C NCBI36
NG_027731.1:g.55476A>G
NG_027731.2:g.174094A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000313961.10:c.236A>G MANE Select ENSP00000319308.5:p.Lys79Arg
ENST00000313961.9:c.236A>G ENSP00000319308.5:p.Lys79Arg
ENST00000367903.7:c.296A>G ENSP00000356879.3:p.Lys99Arg
ENST00000469495.5:n.19A>G
ENST00000525894.5:n.316A>G
ENST00000527988.1:c.-89A>G ENSP00000432313.1:n.-89A>G
ENST00000530241.5:n.488A>G
ENST00000530507.5:c.236A>G ENSP00000433001.1:p.Lys79Arg
ENST00000531476.1:c.125A>G ENSP00000435861.1:p.Lys42Arg
ENST00000531954.5:n.403A>G
ENST00000534288.5:n.543A>G
ENST00000618415.4:c.-89A>G ENSP00000480891.1:n.-89A>G
NM_001195303.2:c.-89A>G NP_001182232.1:n.-89A>G
NM_001254748.1:c.-89A>G NP_001241677.1:n.-89A>G
NM_001254749.1:c.236A>G NP_001241678.1:p.Lys79Arg
NM_003617.3:c.236A>G NP_003608.1:p.Lys79Arg
NM_003617.4:c.236A>G MANE Select NP_003608.1:p.Lys79Arg
NM_001195303.3:c.-89A>G NP_001182232.1:n.-89A>G
NM_001254749.2:c.236A>G NP_001241678.1:p.Lys79Arg
NM_001254748.2:c.-89A>G NP_001241677.1:n.-89A>G
Search 100 bp 5'
Search 100 bp 3'