Linked Data
ClinVar Variation Id:
541804
ClinVar RCV Id:
RCV000652133
dbSNP Id:
rs766931525
ExAC:
21:34787335 G / A
gnomAD v2:
21-34787335-G-A
gnomAD v3:
21-33415028-G-A
gnomAD v4:
21-33415028-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33415028G>A , CM000683.2:g.33415028G>A | GRCh38 |
| NC_000021.8:g.34787335G>A , CM000683.1:g.34787335G>A | GRCh37 |
| NC_000021.7:g.33709205G>A | NCBI36 |
| NG_007570.2:g.35037G>A , LRG_67:g.35037G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696724.1:c.101+8G>A | ENSP00000512835.1:n.101+8G>A | |
| ENST00000290219.11:c.206+8G>A MANE Select | ENSP00000290219.5:n.206+8G>A | |
| ENST00000290219.10:c.206+8G>A | ENSP00000290219.5:n.206+8G>A | |
| ENST00000381995.5:c.263+8G>A | ENSP00000371425.1:n.263+8G>A | |
| ENST00000405436.5:c.-32+8G>A | ENSP00000385044.1:n.-32+8G>A | |
| ENST00000439213.5:c.*181+8G>A | ENSP00000407541.1:n.*181+8G>A | |
| ENST00000545369.2:c.74-6452G>A | ENSP00000442735.2:n.74-6452G>A | |
| NM_005534.3:c.206+8G>A , LRG_67t1:c.206+8G>A | NP_005525.2:n.206+8G>A | |
| XM_005260969.2:c.263+8G>A | XP_005261026.1:n.263+8G>A | |
| XM_011529553.1:c.281+8G>A | XP_011527855.1:n.281+8G>A | |
| XM_011529554.1:c.212+8G>A | XP_011527856.1:n.212+8G>A | |
| NM_001329128.1:c.263+8G>A | NP_001316057.1:n.263+8G>A | |
| XM_011529554.2:c.212+8G>A | XP_011527856.1:n.212+8G>A | |
| NM_001329128.2:c.263+8G>A | NP_001316057.1:n.263+8G>A | |
| NM_005534.4:c.206+8G>A MANE Select | NP_005525.2:n.206+8G>A |