Linked Data
ClinVar Variation Id:
373479
dbSNP Id:
rs141663473
ExAC:
21:47423808 A / C
gnomAD v2:
21-47423808-A-C
gnomAD v3:
21-46003894-A-C
gnomAD v4:
21-46003894-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46003894A>C , CM000683.2:g.46003894A>C | GRCh38 |
| NC_000021.8:g.47423808A>C , CM000683.1:g.47423808A>C | GRCh37 |
| NC_000021.7:g.46248236A>C | NCBI36 |
| NG_008674.1:g.27146A>C , LRG_475:g.27146A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.1367A>C | ||
| ENST00000612273.2:c.1094A>C | ||
| ENST00000682634.1:c.1057+37A>C | ||
| ENST00000361866.8:c.2968A>C MANE Select | ENSP00000355180.3:p.Lys990Gln | |
| ENST00000361866.7:c.2968A>C | ENSP00000355180.3:p.Lys990Gln | |
| ENST00000486023.1:n.756A>C | ||
| ENST00000498614.5:n.1202A>C | ||
| ENST00000612273.1:c.2962A>C | ENSP00000483630.1:p.Lys988Gln | |
| NM_001848.2:c.2968A>C , LRG_475t1:c.2968A>C | NP_001839.2:p.Lys990Gln | |
| NM_001848.3:c.2968A>C MANE Select | NP_001839.2:p.Lys990Gln |