Linked Data
ClinVar Variation Id:
757235
ClinVar RCV Id:
RCV001495354
dbSNP Id:
rs1437662111
gnomAD v2:
21-47404393-C-T
gnomAD v4:
21-45984479-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45984479C>T , CM000683.2:g.45984479C>T | GRCh38 |
| NC_000021.8:g.47404393C>T , CM000683.1:g.47404393C>T | GRCh37 |
| NC_000021.7:g.46228821C>T | NCBI36 |
| NG_008674.1:g.7731C>T , LRG_475:g.7731C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.428+10C>T MANE Select | ENSP00000355180.3:n.428+10C>T | |
| ENST00000361866.7:c.428+10C>T | ENSP00000355180.3:n.428+10C>T | |
| ENST00000612273.1:c.428+10C>T | ENSP00000483630.1:n.428+10C>T | |
| NM_001848.2:c.428+10C>T , LRG_475t1:c.428+10C>T | NP_001839.2:n.428+10C>T | |
| NM_001848.3:c.428+10C>T MANE Select | NP_001839.2:n.428+10C>T |