Linked Data
ClinVar Variation Id:
283458
dbSNP Id:
rs759623301
ExAC:
21:47423750 C / T
gnomAD v2:
21-47423750-C-T
gnomAD v3:
21-46003836-C-T
gnomAD v4:
21-46003836-C-T
COSMIC:
COSM160143
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46003836C>T , CM000683.2:g.46003836C>T | GRCh38 |
| NC_000021.8:g.47423750C>T , CM000683.1:g.47423750C>T | GRCh37 |
| NC_000021.7:g.46248178C>T | NCBI36 |
| NG_008674.1:g.27088C>T , LRG_475:g.27088C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.1309C>T | ||
| ENST00000612273.2:c.1036C>T | ||
| ENST00000682634.1:c.1036C>T | ||
| ENST00000361866.8:c.2910C>T MANE Select | ENSP00000355180.3:p.Phe970= | |
| ENST00000361866.7:c.2910C>T | ENSP00000355180.3:p.Phe970= | |
| ENST00000486023.1:n.698C>T | ||
| ENST00000498614.5:n.1144C>T | ||
| ENST00000612273.1:c.2904C>T | ENSP00000483630.1:p.Phe968= | |
| NM_001848.2:c.2910C>T , LRG_475t1:c.2910C>T | NP_001839.2:p.Phe970= | |
| NM_001848.3:c.2910C>T MANE Select | NP_001839.2:p.Phe970= |