Linked Data
ClinVar Variation Id:
1135130
dbSNP Id:
rs371906160
ExAC:
10:50732567 C / A
gnomAD v2:
10-50732567-C-A
gnomAD v3:
10-49524521-C-A
gnomAD v4:
10-49524521-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49524521C>A , CM000672.2:g.49524521C>A | GRCh38 |
| NC_000010.10:g.50732567C>A , CM000672.1:g.50732567C>A | GRCh37 |
| NC_000010.9:g.50402573C>A | NCBI36 |
| NG_009442.1:g.19581G>T , LRG_465:g.19581G>T | |
| NG_033155.1:g.4761G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.909G>T MANE Select | ENSP00000348089.5:p.Thr303= | |
| ENST00000447839.7:c.909G>T MANE Plus Clinical | ENSP00000387966.2:p.Thr303= | |
| ENST00000679596.1:c.*538G>T | ENSP00000504862.1:n.*538G>T | |
| ENST00000679811.1:n.992G>T | ||
| ENST00000680107.1:c.652+3896G>T | ENSP00000505909.1:n.652+3896G>T | |
| ENST00000680233.1:n.1002G>T | ||
| ENST00000681632.1:n.987G>T | ||
| ENST00000681659.1:c.909G>T | ENSP00000505631.1:p.Thr303= | |
| ENST00000355832.9:c.909G>T | ENSP00000348089.5:p.Thr303= | |
| ENST00000447839.6:c.909G>T | ENSP00000387966.2:p.Thr303= | |
| ENST00000515869.1:c.909G>T | ENSP00000423550.1:p.Thr303= | |
| NM_000124.3:c.909G>T | NP_000115.1:p.Thr303= | |
| NM_001277058.1:c.909G>T | NP_001263987.1:p.Thr303= | |
| NM_001277059.1:c.909G>T | NP_001263988.1:p.Thr303= | |
| NM_001346440.1:c.909G>T | NP_001333369.1:p.Thr303= | |
| NM_000124.4:c.909G>T MANE Select | NP_000115.1:p.Thr303= | |
| NM_001277058.2:c.909G>T MANE Plus Clinical | NP_001263987.1:p.Thr303= | |
| NM_001277059.2:c.909G>T | NP_001263988.1:p.Thr303= | |
| NM_001346440.2:c.909G>T | NP_001333369.1:p.Thr303= |