Linked Data
ClinVar Variation Id:
1665085
ClinVar RCV Id:
RCV002191435
dbSNP Id:
rs762420616
gnomAD v2:
21-34775858-G-A
gnomAD v4:
21-33403552-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33403552G>A , CM000683.2:g.33403552G>A | GRCh38 |
| NC_000021.8:g.34775858G>A , CM000683.1:g.34775858G>A | GRCh37 |
| NC_000021.7:g.33697728G>A | NCBI36 |
| NG_007570.2:g.23560G>A , LRG_67:g.23560G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290219.11:c.9G>A MANE Select | ENSP00000290219.5:p.Pro3= | |
| ENST00000290219.10:c.9G>A | ENSP00000290219.5:p.Pro3= | |
| ENST00000381995.5:c.9G>A | ENSP00000371425.1:p.Pro3= | |
| ENST00000405436.5:c.-281G>A | ENSP00000385044.1:n.-281G>A | |
| ENST00000439213.5:c.9G>A | ENSP00000407541.1:p.Pro3= | |
| ENST00000545369.2:c.9G>A | ENSP00000442735.2:p.Pro3= | |
| NM_005534.3:c.9G>A , LRG_67t1:c.9G>A | NP_005525.2:p.Pro3= | |
| XM_005260969.2:c.9G>A | XP_005261026.1:p.Pro3= | |
| NM_001329128.1:c.9G>A | NP_001316057.1:p.Pro3= | |
| NM_001329128.2:c.9G>A | NP_001316057.1:p.Pro3= | |
| NM_005534.4:c.9G>A MANE Select | NP_005525.2:p.Pro3= |