Linked Data
ClinVar Variation Id:
286024
dbSNP Id:
rs144585693
ExAC:
21:47423573 C / T
gnomAD v2:
21-47423573-C-T
gnomAD v3:
21-46003659-C-T
gnomAD v4:
21-46003659-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46003659C>T , CM000683.2:g.46003659C>T | GRCh38 |
| NC_000021.8:g.47423573C>T , CM000683.1:g.47423573C>T | GRCh37 |
| NC_000021.7:g.46248001C>T | NCBI36 |
| NG_008674.1:g.26911C>T , LRG_475:g.26911C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.1132C>T | ||
| ENST00000612273.2:c.859C>T | ||
| ENST00000682634.1:c.859C>T | ||
| ENST00000361866.8:c.2733C>T MANE Select | ENSP00000355180.3:p.Asn911= | |
| ENST00000361866.7:c.2733C>T | ENSP00000355180.3:p.Asn911= | |
| ENST00000486023.1:n.521C>T | ||
| ENST00000498614.5:n.967C>T | ||
| ENST00000612273.1:c.2727C>T | ENSP00000483630.1:p.Asn909= | |
| NM_001848.2:c.2733C>T , LRG_475t1:c.2733C>T | NP_001839.2:p.Asn911= | |
| NM_001848.3:c.2733C>T MANE Select | NP_001839.2:p.Asn911= |