Linked Data
ClinVar Variation Id:
447094
dbSNP Id:
rs5253
ExAC:
1:16380196 T / C
gnomAD v2:
1-16380196-T-C
gnomAD v3:
1-16053701-T-C
gnomAD v4:
1-16053701-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16053701T>C , CM000663.2:g.16053701T>C | GRCh38 |
| NC_000001.10:g.16380196T>C , CM000663.1:g.16380196T>C | GRCh37 |
| NC_000001.9:g.16252783T>C | NCBI36 |
| NG_013079.1:g.14950T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682338.1:c.1685T>C | ENSP00000507062.1:p.Met562Thr | |
| ENST00000682793.1:c.1685T>C | ENSP00000506910.1:p.Met562Thr | |
| ENST00000682838.1:c.*1427T>C | ENSP00000507652.1:n.*1427T>C | |
| ENST00000683578.1:c.1685T>C | ENSP00000507430.1:p.Met562Thr | |
| ENST00000683606.1:n.1291T>C | ||
| ENST00000683661.1:n.3220T>C | ||
| ENST00000684324.1:c.1685T>C | ENSP00000507937.1:p.Met562Thr | |
| ENST00000684545.1:c.1685T>C | ENSP00000506733.1:p.Met562Thr | |
| ENST00000684624.1:n.1062T>C | ||
| ENST00000684714.1:c.1685T>C | ENSP00000506861.1:p.Met562Thr | |
| ENST00000684731.1:n.1083+1290T>C | ||
| ENST00000375679.9:c.1685T>C MANE Select | ENSP00000364831.5:p.Met562Thr | |
| ENST00000375667.7:c.1178T>C | ENSP00000364819.3:p.Met393Thr | |
| ENST00000375679.8:c.1685T>C | ENSP00000364831.4:p.Met562Thr | |
| ENST00000431772.1:c.152T>C | ENSP00000389344.1:p.Met51Thr | |
| ENST00000619181.4:c.1293+11T>C | ENSP00000483866.1:n.1293+11T>C | |
| NM_000085.4:c.1685T>C | NP_000076.2:p.Met562Thr | |
| NM_001165945.2:c.1178T>C | NP_001159417.2:p.Met393Thr | |
| XM_011540619.1:c.1526T>C | XP_011538921.1:p.Met509Thr | |
| XM_011540621.1:c.1034T>C | XP_011538923.1:p.Met345Thr | |
| NM_000085.5:c.1685T>C MANE Select | NP_000076.2:p.Met562Thr |