Linked Data
ClinVar Variation Id:
93838
dbSNP Id:
rs398123633
ExAC:
21:47421158 C / T
gnomAD v2:
21-47421158-C-T
gnomAD v3:
21-46001244-C-T
gnomAD v4:
21-46001244-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46001244C>T , CM000683.2:g.46001244C>T | GRCh38 |
| NC_000021.8:g.47421158C>T , CM000683.1:g.47421158C>T | GRCh37 |
| NC_000021.7:g.46245586C>T | NCBI36 |
| NG_008674.1:g.24496C>T , LRG_475:g.24496C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.222-9C>T | ||
| ENST00000361866.8:c.1823-9C>T MANE Select | ENSP00000355180.3:n.1823-9C>T | |
| ENST00000361866.7:c.1823-9C>T | ENSP00000355180.3:n.1823-9C>T | |
| ENST00000463060.5:n.222-9C>T | ||
| ENST00000498614.5:n.48C>T | ||
| ENST00000612273.1:c.1817-9C>T | ENSP00000483630.1:n.1817-9C>T | |
| NM_001848.2:c.1823-9C>T , LRG_475t1:c.1823-9C>T | NP_001839.2:n.1823-9C>T | |
| NM_001848.3:c.1823-9C>T MANE Select | NP_001839.2:n.1823-9C>T |