Linked Data
ClinVar Variation Id:
1603589
ClinVar RCV Id:
RCV002142149
dbSNP Id:
rs756365436
gnomAD v2:
14-99640737-C-T
gnomAD v4:
14-99174400-C-T
COSMIC:
COSM6222552
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.99174400C>T , CM000676.2:g.99174400C>T | GRCh38 |
| NC_000014.8:g.99640737C>T , CM000676.1:g.99640737C>T | GRCh37 |
| NC_000014.7:g.98710490C>T | NCBI36 |
| NG_027894.1:g.102086G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357195.8:c.2436G>A MANE Select | ENSP00000349723.3:p.Thr812= | |
| ENST00000345514.2:c.2223G>A | ENSP00000280435.6:p.Thr741= | |
| ENST00000357195.7:c.2436G>A | ENSP00000349723.3:p.Thr812= | |
| ENST00000443726.2:c.1854G>A | ENSP00000387419.2:p.Thr618= | |
| NM_001282237.1:c.2433G>A | NP_001269166.1:p.Thr811= | |
| NM_001282238.1:c.2220G>A | NP_001269167.1:p.Thr740= | |
| NM_022898.2:c.2223G>A | NP_075049.1:p.Thr741= | |
| NM_138576.3:c.2436G>A | NP_612808.1:p.Thr812= | |
| XM_011537100.1:c.2298G>A | XP_011535402.1:p.Thr766= | |
| NM_138576.4:c.2436G>A MANE Select | NP_612808.1:p.Thr812= | |
| NM_001282237.2:c.2433G>A | NP_001269166.1:p.Thr811= | |
| NM_001282238.2:c.2220G>A | NP_001269167.1:p.Thr740= | |
| NM_022898.3:c.2223G>A | NP_075049.1:p.Thr741= |