Linked Data
ClinVar Variation Id:
1675654
ClinVar RCV Id:
RCV002211383
dbSNP Id:
rs758275567
ExAC:
17:6606329 C / T
gnomAD v2:
17-6606329-C-T
gnomAD v4:
17-6703010-C-T
COSMIC:
COSM5468802
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6703010C>T , CM000679.2:g.6703010C>T | GRCh38 |
| NC_000017.10:g.6606329C>T , CM000679.1:g.6606329C>T | GRCh37 |
| NC_000017.9:g.6547053C>T | NCBI36 |
| NG_034220.1:g.15412G>A , LRG_1020:g.15412G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433363.7:c.676G>A MANE Select | ENSP00000406220.2:p.Gly226Arg | |
| ENST00000293800.10:c.625G>A | ENSP00000293800.6:p.Gly209Arg | |
| ENST00000381074.8:c.547G>A | ENSP00000370464.4:p.Gly183Arg | |
| ENST00000433363.6:c.676G>A | ENSP00000406220.2:p.Gly226Arg | |
| ENST00000572094.1:c.*426G>A | ENSP00000461495.1:n.*426G>A | |
| ENST00000573648.5:c.676G>A | ENSP00000459372.1:p.Gly226Arg | |
| ENST00000574824.5:n.1809G>A | ||
| NM_001143838.2:c.676G>A | NP_001137310.1:p.Gly226Arg | |
| NM_001284509.1:c.625G>A | NP_001271438.1:p.Gly209Arg | |
| NM_001284510.1:c.547G>A | NP_001271439.1:p.Gly183Arg | |
| NM_177550.4:c.676G>A , LRG_1020t1:c.676G>A | NP_808218.1:p.Gly226Arg | |
| XM_006721504.2:c.565G>A | XP_006721567.1:p.Gly189Arg | |
| XM_011523795.1:c.676G>A | XP_011522097.1:p.Gly226Arg | |
| XM_011523795.3:c.676G>A | XP_011522097.1:p.Gly226Arg | |
| NM_001143838.3:c.676G>A | NP_001137310.1:p.Gly226Arg | |
| NM_001284509.2:c.625G>A | NP_001271438.1:p.Gly209Arg | |
| NM_001284510.2:c.547G>A | NP_001271439.1:p.Gly183Arg | |
| NM_177550.5:c.676G>A MANE Select | NP_808218.1:p.Gly226Arg |