Canonical Allele Identifier: CA12282363
Gene: RGS17 HGNC NCBI
COSMIC:
COSN14947777 (not active)
MyVariant.info:
GRCh38 chr6:g.153119944A>G
GRCh37 chr6:g.153441079A>G
gnomAD v2:
6:153441079 A / G
gnomAD v3:
6:153119944 A / G
gnomAD v4:
chr6-153119944-A-G
Joint Max Group AF 0.82759762 (EAS)
Genomes Max Group AF 0.82759762 (EAS)
dbSNP:
1933488
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.153119944A>G , CM000668.2:g.153119944A>G GRCh38
NC_000006.11:g.153441079A>G , CM000668.1:g.153441079A>G GRCh37
NC_000006.10:g.153482772A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000206262.2:c.-26+11180T>C MANE Select ENSP00000206262.1:n.-26+11180T>C
ENST00000206262.1:c.-26+11180T>C ENSP00000206262.1:n.-26+11180T>C
NM_012419.4:c.-26+11180T>C NP_036551.3:n.-26+11180T>C
XM_011535752.1:c.20+11095T>C XP_011534054.1:n.20+11095T>C
XM_011535753.1:c.8+5140T>C XP_011534055.1:n.8+5140T>C
XM_011535754.1:c.-26+10355T>C XP_011534056.1:n.-26+10355T>C
XM_017010733.1:c.-26+11180T>C XP_016866222.1:n.-26+11180T>C
NM_012419.5:c.-26+11180T>C MANE Select NP_036551.3:n.-26+11180T>C
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