Linked Data
ClinVar Variation Id:
501727
dbSNP Id:
rs147945403
ExAC:
2:110902080 T / C
gnomAD v2:
2-110902080-T-C
gnomAD v3:
2-110144503-T-C
gnomAD v4:
2-110144503-T-C
COSMIC:
COSM1581344
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.110144503T>C , CM000664.2:g.110144503T>C | GRCh38 |
| NC_000002.11:g.110902080T>C , CM000664.1:g.110902080T>C | GRCh37 |
| NC_000002.10:g.110259369T>C | NCBI36 |
| NG_008287.1:g.65560A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445609.7:c.1419A>G MANE Select | ENSP00000389879.3:p.Ile473Met | |
| ENST00000674677.1:c.1464A>G | ENSP00000502265.1:p.Ile488Met | |
| ENST00000675067.1:c.618A>G | ENSP00000502817.1:p.Ile206Met | |
| ENST00000675356.1:n.2097A>G | ||
| ENST00000675632.1:n.2823A>G | ||
| ENST00000675752.1:n.3122A>G | ||
| ENST00000676028.1:c.1236A>G | ENSP00000502639.1:p.Ile412Met | |
| ENST00000676053.1:c.1230A>G | ENSP00000502475.1:p.Ile410Met | |
| ENST00000676091.1:c.615A>G | ENSP00000502528.1:p.Ile205Met | |
| ENST00000676165.1:n.3082A>G | ||
| ENST00000676258.1:n.2510A>G | ||
| ENST00000316534.8:c.1587A>G | ENSP00000313169.4:p.Ile529Met | |
| ENST00000355301.8:c.1230A>G | ENSP00000347452.4:p.Ile410Met | |
| ENST00000393272.7:c.1584A>G | ENSP00000376953.3:p.Ile528Met | |
| ENST00000417665.5:c.1416A>G | ENSP00000402176.1:p.Ile472Met | |
| ENST00000445609.6:c.1419A>G | ENSP00000389879.2:p.Ile473Met | |
| ENST00000461707.5:n.3004A>G | ||
| ENST00000493051.1:n.46A>G | ||
| ENST00000496524.5:n.3020A>G | ||
| NM_000272.3:c.1587A>G | NP_000263.2:p.Ile529Met | |
| NM_001128178.1:c.1419A>G | NP_001121650.1:p.Ile473Met | |
| NM_001128179.1:c.1230A>G | NP_001121651.1:p.Ile410Met | |
| NM_207181.2:c.1584A>G | NP_997064.2:p.Ile528Met | |
| XM_005263675.1:c.1584A>G | XP_005263732.1:p.Ile528Met | |
| XM_005263676.1:c.1419A>G | XP_005263733.1:p.Ile473Met | |
| XM_005263677.1:c.1416A>G | XP_005263734.1:p.Ile472Met | |
| XM_005263678.2:c.1587A>G | XP_005263735.1:p.Ile529Met | |
| XM_005263679.1:c.1416A>G | XP_005263736.1:p.Ile472Met | |
| XM_006712551.1:c.1587A>G | XP_006712614.1:p.Ile529Met | |
| XM_011511244.1:c.1587A>G | XP_011509546.1:p.Ile529Met | |
| XM_017004218.1:c.1419A>G | XP_016859707.1:p.Ile473Met | |
| NM_000272.4:c.1587A>G | NP_000263.2:p.Ile529Met | |
| NM_001128178.3:c.1419A>G MANE Select | NP_001121650.1:p.Ile473Met | |
| NM_001128179.2:c.1230A>G | NP_001121651.1:p.Ile410Met | |
| NM_001374256.1:c.1416A>G | NP_001361185.1:p.Ile472Met | |
| NM_001374257.1:c.1419A>G | NP_001361186.1:p.Ile473Met | |
| NM_207181.3:c.1584A>G | NP_997064.2:p.Ile528Met | |
| NM_000272.5:c.1587A>G | NP_000263.2:p.Ile529Met | |
| NM_001128179.3:c.1230A>G | NP_001121651.1:p.Ile410Met | |
| NM_207181.4:c.1584A>G | NP_997064.2:p.Ile528Met |