Linked Data
ClinVar Variation Id:
1414093
ClinVar RCV Id:
RCV001928523
dbSNP Id:
rs143048174
ExAC:
11:44129528 C / T
gnomAD v2:
11-44129528-C-T
gnomAD v3:
11-44107978-C-T
gnomAD v4:
11-44107978-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44107978C>T , CM000673.2:g.44107978C>T | GRCh38 |
| NC_000011.9:g.44129528C>T , CM000673.1:g.44129528C>T | GRCh37 |
| NC_000011.8:g.44086104C>T | NCBI36 |
| NG_007560.1:g.17430C>T , LRG_494:g.17430C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343631.4:c.266C>T | ENSP00000342656.3:p.Thr89Met | |
| ENST00000395673.8:c.266C>T | ENSP00000379032.4:p.Thr89Met | |
| ENST00000531161.6:n.425C>T | ||
| ENST00000682359.1:c.266C>T | ENSP00000508226.1:p.Thr89Met | |
| ENST00000682711.1:c.-544+12126C>T | ENSP00000506803.1:n.-544+12126C>T | |
| ENST00000682815.1:c.266C>T | ENSP00000507234.1:p.Thr89Met | |
| ENST00000682947.1:n.440C>T | ||
| ENST00000682993.1:c.266C>T | ENSP00000507580.1:p.Thr89Met | |
| ENST00000683000.1:c.266C>T | ENSP00000508361.1:p.Thr89Met | |
| ENST00000683299.1:n.683C>T | ||
| ENST00000683870.1:c.266C>T | ENSP00000507922.1:p.Thr89Met | |
| ENST00000683881.1:n.2827C>T | ||
| ENST00000684039.1:c.266C>T | ENSP00000507677.1:p.Thr89Met | |
| ENST00000684124.1:c.266C>T | ENSP00000508332.1:p.Thr89Met | |
| ENST00000684533.1:c.266C>T | ENSP00000507915.1:p.Thr89Met | |
| ENST00000533608.7:c.266C>T MANE Select | ENSP00000431173.2:p.Thr89Met | |
| ENST00000343631.3:c.266C>T | ENSP00000342656.3:p.Thr89Met | |
| ENST00000358681.8:c.266C>T | ENSP00000351509.4:p.Thr89Met | |
| ENST00000395673.7:c.365C>T | ENSP00000379032.3:p.Thr122Met | |
| ENST00000527014.1:c.266C>T | ENSP00000434716.1:p.Thr89Met | |
| ENST00000533608.5:c.266C>T | ENSP00000431173.1:p.Thr89Met | |
| NM_000401.3:c.365C>T , LRG_494t1:c.365C>T | NP_000392.3:p.Thr122Met | |
| NM_001178083.1:c.266C>T | NP_001171554.1:p.Thr89Met | |
| NM_207122.1:c.266C>T , LRG_494t2:c.266C>T | NP_997005.1:p.Thr89Met | |
| XM_011519950.1:c.404C>T | XP_011518252.1:p.Thr135Met | |
| XM_011519951.1:c.305C>T | XP_011518253.1:p.Thr102Met | |
| XM_024448383.1:c.404C>T | XP_024304151.1:p.Thr135Met | |
| NM_001178083.2:c.266C>T | NP_001171554.1:p.Thr89Met | |
| NM_207122.2:c.266C>T MANE Select | NP_997005.1:p.Thr89Met | |
| NM_001178083.3:c.266C>T | NP_001171554.1:p.Thr89Met | |
| NM_001389628.1:c.266C>T | NP_001376557.1:p.Thr89Met | |
| NM_001389630.1:c.266C>T | NP_001376559.1:p.Thr89Met |