Linked Data
ClinVar Variation Id:
281700
dbSNP Id:
rs138312247
ExAC:
21:47421968 G / T
gnomAD v2:
21-47421968-G-T
gnomAD v3:
21-46002054-G-T
gnomAD v4:
21-46002054-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46002054G>T , CM000683.2:g.46002054G>T | GRCh38 |
| NC_000021.8:g.47421968G>T , CM000683.1:g.47421968G>T | GRCh37 |
| NC_000021.7:g.46246396G>T | NCBI36 |
| NG_008674.1:g.25306G>T , LRG_475:g.25306G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.449G>T | ||
| ENST00000612273.2:c.176G>T | ||
| ENST00000682634.1:c.176G>T | ||
| ENST00000361866.8:c.2050G>T MANE Select | ENSP00000355180.3:p.Val684Leu | |
| ENST00000361866.7:c.2050G>T | ENSP00000355180.3:p.Val684Leu | |
| ENST00000463060.5:n.449G>T | ||
| ENST00000498614.5:n.284G>T | ||
| ENST00000612273.1:c.2044G>T | ENSP00000483630.1:p.Val682Leu | |
| NM_001848.2:c.2050G>T , LRG_475t1:c.2050G>T | NP_001839.2:p.Val684Leu | |
| NM_001848.3:c.2050G>T MANE Select | NP_001839.2:p.Val684Leu |