Canonical Allele Identifier: CA1301590
Gene: RGS13 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.192644392C>T
GRCh37 chr1:g.192613522C>T
Revel Score:
ENST00000391995 (MANE Select) 0.040
ENST00000543215 0.040
gnomAD v2:
1:192613522 C / T
gnomAD v3:
1:192644392 C / T
gnomAD v4:
chr1-192644392-C-T
Joint Max Group AF 0.0003343 (AFR)
Genomes Max Group AF 0.00031999 (AFR)
Exomes Max Group AF 0.00025326 (AFR)
ClinVar RCV:
RCV004212746
ClinVar Variation:
2373716
dbSNP:
146420296
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.192644392C>T , CM000663.2:g.192644392C>T GRCh38
NC_000001.10:g.192613522C>T , CM000663.1:g.192613522C>T GRCh37
NC_000001.9:g.190880145C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000391995.7:c.58C>T MANE Select ENSP00000375853.2:p.Pro20Ser
ENST00000391995.6:c.58C>T ENSP00000375853.2:p.Pro20Ser
ENST00000462955.1:n.306C>T
ENST00000543215.5:c.58C>T ENSP00000442837.1:p.Pro20Ser
NM_002927.4:c.58C>T NP_002918.1:p.Pro20Ser
NM_144766.2:c.58C>T NP_658912.1:p.Pro20Ser
NM_002927.5:c.58C>T MANE Select NP_002918.1:p.Pro20Ser
NM_144766.3:c.58C>T NP_658912.1:p.Pro20Ser
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