Linked Data
ClinVar Variation Id:
282543
dbSNP Id:
rs768906709
ExAC:
21:47421173 A / C
gnomAD v2:
21-47421173-A-C
gnomAD v4:
21-46001259-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46001259A>C , CM000683.2:g.46001259A>C | GRCh38 |
| NC_000021.8:g.47421173A>C , CM000683.1:g.47421173A>C | GRCh37 |
| NC_000021.7:g.46245601A>C | NCBI36 |
| NG_008674.1:g.24511A>C , LRG_475:g.24511A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.228A>C | ||
| ENST00000361866.8:c.1829A>C MANE Select | ENSP00000355180.3:p.Lys610Thr | |
| ENST00000361866.7:c.1829A>C | ENSP00000355180.3:p.Lys610Thr | |
| ENST00000463060.5:n.228A>C | ||
| ENST00000498614.5:n.63A>C | ||
| ENST00000612273.1:c.1823A>C | ENSP00000483630.1:p.Lys608Thr | |
| NM_001848.2:c.1829A>C , LRG_475t1:c.1829A>C | NP_001839.2:p.Lys610Thr | |
| NM_001848.3:c.1829A>C MANE Select | NP_001839.2:p.Lys610Thr |