Linked Data
ClinVar Variation Id:
288369
dbSNP Id:
rs114250691
ExAC:
2:110920681 A / G
gnomAD v2:
2-110920681-A-G
gnomAD v3:
2-110163104-A-G
gnomAD v4:
2-110163104-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.110163104A>G , CM000664.2:g.110163104A>G | GRCh38 |
| NC_000002.11:g.110920681A>G , CM000664.1:g.110920681A>G | GRCh37 |
| NC_000002.10:g.110277970A>G | NCBI36 |
| NG_008287.1:g.46959T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445609.7:c.803T>C MANE Select | ENSP00000389879.3:p.Met268Thr | |
| ENST00000674677.1:c.734T>C | ENSP00000502265.1:p.Met245Thr | |
| ENST00000675067.1:c.2T>C | ENSP00000502817.1:p.Met1Thr | |
| ENST00000675356.1:n.1291T>C | ||
| ENST00000675752.1:n.2388T>C | ||
| ENST00000676028.1:c.771+1584T>C | ENSP00000502639.1:n.771+1584T>C | |
| ENST00000676053.1:c.614T>C | ENSP00000502475.1:p.Met205Thr | |
| ENST00000676091.1:c.150+1584T>C | ENSP00000502528.1:n.150+1584T>C | |
| ENST00000676165.1:n.2394T>C | ||
| ENST00000676258.1:n.1894T>C | ||
| ENST00000316534.8:c.971T>C | ENSP00000313169.4:p.Met324Thr | |
| ENST00000355301.8:c.614T>C | ENSP00000347452.4:p.Met205Thr | |
| ENST00000393272.7:c.968T>C | ENSP00000376953.3:p.Met323Thr | |
| ENST00000417665.5:c.800T>C | ENSP00000402176.1:p.Met267Thr | |
| ENST00000445609.6:c.803T>C | ENSP00000389879.2:p.Met268Thr | |
| ENST00000461707.5:n.2388T>C | ||
| ENST00000496524.5:n.2404T>C | ||
| NM_000272.3:c.971T>C | NP_000263.2:p.Met324Thr | |
| NM_001128178.1:c.803T>C | NP_001121650.1:p.Met268Thr | |
| NM_001128179.1:c.614T>C | NP_001121651.1:p.Met205Thr | |
| NM_207181.2:c.968T>C | NP_997064.2:p.Met323Thr | |
| XM_005263675.1:c.968T>C | XP_005263732.1:p.Met323Thr | |
| XM_005263676.1:c.803T>C | XP_005263733.1:p.Met268Thr | |
| XM_005263677.1:c.800T>C | XP_005263734.1:p.Met267Thr | |
| XM_005263678.2:c.971T>C | XP_005263735.1:p.Met324Thr | |
| XM_005263679.1:c.800T>C | XP_005263736.1:p.Met267Thr | |
| XM_006712551.1:c.971T>C | XP_006712614.1:p.Met324Thr | |
| XM_006712552.2:c.971T>C | XP_006712615.1:p.Met324Thr | |
| XM_011511244.1:c.971T>C | XP_011509546.1:p.Met324Thr | |
| XM_017004218.1:c.803T>C | XP_016859707.1:p.Met268Thr | |
| NM_000272.4:c.971T>C | NP_000263.2:p.Met324Thr | |
| NM_001128178.3:c.803T>C MANE Select | NP_001121650.1:p.Met268Thr | |
| NM_001128179.2:c.614T>C | NP_001121651.1:p.Met205Thr | |
| NM_001374256.1:c.800T>C | NP_001361185.1:p.Met267Thr | |
| NM_001374257.1:c.803T>C | NP_001361186.1:p.Met268Thr | |
| NM_207181.3:c.968T>C | NP_997064.2:p.Met323Thr | |
| NM_000272.5:c.971T>C | NP_000263.2:p.Met324Thr | |
| NM_001128179.3:c.614T>C | NP_001121651.1:p.Met205Thr | |
| NM_207181.4:c.968T>C | NP_997064.2:p.Met323Thr |