Linked Data
ClinVar Variation Id:
2157092
dbSNP Id:
rs370437884
ExAC:
11:17523063 A / G
gnomAD v2:
11-17523063-A-G
gnomAD v3:
11-17501516-A-G
gnomAD v4:
11-17501516-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17501516A>G , CM000673.2:g.17501516A>G | GRCh38 |
| NC_000011.9:g.17523063A>G , CM000673.1:g.17523063A>G | GRCh37 |
| NC_000011.8:g.17479639A>G | NCBI36 |
| NG_011883.1:g.47901T>C | |
| NG_011883.2:g.47901T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005226.12:c.2246T>C MANE Select | ENSP00000005226.7:p.Met749Thr | |
| ENST00000318024.9:c.1346T>C MANE Plus Clinical | ENSP00000317018.4:p.Met449Thr | |
| ENST00000005226.11:c.2246T>C | ENSP00000005226.7:p.Met749Thr | |
| ENST00000318024.8:c.1346T>C | ENSP00000317018.4:p.Met449Thr | |
| ENST00000526313.5:c.*60T>C | ENSP00000432236.1:n.*60T>C | |
| ENST00000527020.5:c.1289T>C | ENSP00000436934.1:p.Met430Thr | |
| ENST00000527720.5:c.1253T>C | ENSP00000432944.1:p.Met418Thr | |
| ENST00000529563.5:n.230T>C | ||
| ENST00000534556.1:n.131T>C | ||
| NM_001297764.1:c.1289T>C | NP_001284693.1:p.Met430Thr | |
| NM_005709.3:c.1346T>C | NP_005700.2:p.Met449Thr | |
| NM_153676.3:c.2246T>C | NP_710142.1:p.Met749Thr | |
| NR_123738.1:n.1381T>C | ||
| XM_011519831.1:c.2270T>C | XP_011518133.1:p.Met757Thr | |
| XM_011519832.1:c.1499T>C | XP_011518134.1:p.Met500Thr | |
| XM_011519833.1:c.1396T>C | XP_011518135.1:p.Trp466Arg | |
| XR_930841.1:n.1717T>C | ||
| XR_930842.1:n.1658T>C | ||
| XM_011519832.3:c.1499T>C | XP_011518134.1:p.Met500Thr | |
| XM_017017075.1:c.2246T>C | XP_016872564.1:p.Met749Thr | |
| XR_001747717.2:n.1505T>C | ||
| NM_153676.4:c.2246T>C MANE Select | NP_710142.1:p.Met749Thr | |
| NM_001297764.2:c.1289T>C | NP_001284693.1:p.Met430Thr | |
| NM_005709.4:c.1346T>C MANE Plus Clinical | NP_005700.2:p.Met449Thr | |
| NR_123738.2:n.1381T>C |