Linked Data
ClinVar Variation Id:
543001
dbSNP Id:
rs866987981
gnomAD v2:
21-47406890-C-A
gnomAD v3:
21-45986976-C-A
gnomAD v4:
21-45986976-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45986976C>A , CM000683.2:g.45986976C>A | GRCh38 |
| NC_000021.8:g.47406890C>A , CM000683.1:g.47406890C>A | GRCh37 |
| NC_000021.7:g.46231318C>A | NCBI36 |
| NG_008674.1:g.10228C>A , LRG_475:g.10228C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.621C>A MANE Select | ENSP00000355180.3:p.His207Gln | |
| ENST00000361866.7:c.621C>A | ENSP00000355180.3:p.His207Gln | |
| ENST00000612273.1:c.621C>A | ENSP00000483630.1:p.His207Gln | |
| NM_001848.2:c.621C>A , LRG_475t1:c.621C>A | NP_001839.2:p.His207Gln | |
| NM_001848.3:c.621C>A MANE Select | NP_001839.2:p.His207Gln |