Canonical Allele Identifier: CA3580086
Gene: RGS14 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.177371305G>A
GRCh37 chr5:g.176798306G>A
gnomAD v2:
5:176798306 G / A
gnomAD v3:
5:177371305 G / A
gnomAD v4:
chr5-177371305-G-A
Joint Max Group AF 0.27348325 (SAS)
Genomes Max Group AF 0.26854045 (NFE)
Exomes Max Group AF 0.27410062 (SAS)
dbSNP:
11746443
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177371305G>A , CM000667.2:g.177371305G>A GRCh38
NC_000005.9:g.176798306G>A , CM000667.1:g.176798306G>A GRCh37
NC_000005.8:g.176730912G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000408923.8:c.1337-45G>A MANE Select ENSP00000386229.3:n.1337-45G>A
ENST00000408923.7:c.1337-45G>A ENSP00000386229.3:n.1337-45G>A
ENST00000425155.6:n.1444-45G>A
ENST00000502731.5:n.322-45G>A
ENST00000503044.5:n.141-45G>A
ENST00000506944.1:n.135-45G>A
ENST00000509289.1:n.182-45G>A
ENST00000511890.1:c.949-45G>A
ENST00000514102.5:n.294-45G>A
NM_006480.4:c.1337-45G>A NP_006471.2:n.1337-45G>A
XM_005265794.3:c.1340-45G>A XP_005265851.1:n.1340-45G>A
XM_005265795.3:c.1340-45G>A XP_005265852.1:n.1340-45G>A
NM_001366617.1:c.1340-45G>A NP_001353546.1:n.1340-45G>A
NM_001366618.1:c.1340-45G>A NP_001353547.1:n.1340-45G>A
XM_024454328.1:c.1340-45G>A XP_024310096.1:n.1340-45G>A
NM_006480.5:c.1337-45G>A MANE Select NP_006471.2:n.1337-45G>A
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