Linked Data
ClinVar Variation Id:
1593854
ClinVar RCV Id:
RCV002115205
dbSNP Id:
rs762495019
ExAC:
21:47410351 A / T
gnomAD v2:
21-47410351-A-T
gnomAD v3:
21-45990437-A-T
gnomAD v4:
21-45990437-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990437A>T , CM000683.2:g.45990437A>T | GRCh38 |
| NC_000021.8:g.47410351A>T , CM000683.1:g.47410351A>T | GRCh37 |
| NC_000021.7:g.46234779A>T | NCBI36 |
| NG_008674.1:g.13689A>T , LRG_475:g.13689A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+15A>T MANE Select | ENSP00000355180.3:n.1002+15A>T | |
| ENST00000361866.7:c.1002+15A>T | ENSP00000355180.3:n.1002+15A>T | |
| ENST00000612273.1:c.1002+15A>T | ENSP00000483630.1:n.1002+15A>T | |
| NM_001848.2:c.1002+15A>T , LRG_475t1:c.1002+15A>T | NP_001839.2:n.1002+15A>T | |
| NM_001848.3:c.1002+15A>T MANE Select | NP_001839.2:n.1002+15A>T |