Linked Data
ClinVar Variation Id:
1147559
ClinVar RCV Id:
RCV001487123
dbSNP Id:
rs758417098
ExAC:
21:34793865 C / T
gnomAD v2:
21-34793865-C-T
gnomAD v3:
21-33421558-C-T
gnomAD v4:
21-33421558-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33421558C>T , CM000683.2:g.33421558C>T | GRCh38 |
| NC_000021.8:g.34793865C>T , CM000683.1:g.34793865C>T | GRCh37 |
| NC_000021.7:g.33715735C>T | NCBI36 |
| NG_007570.2:g.41567C>T , LRG_67:g.41567C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696724.1:c.180C>T | ENSP00000512835.1:p.Asp60= | |
| ENST00000290219.11:c.285C>T MANE Select | ENSP00000290219.5:p.Asp95= | |
| ENST00000290219.10:c.285C>T | ENSP00000290219.5:p.Asp95= | |
| ENST00000381995.5:c.342C>T | ENSP00000371425.1:p.Asp114= | |
| ENST00000405436.5:c.48C>T | ENSP00000385044.1:p.Asp16= | |
| ENST00000439213.5:c.*260C>T | ENSP00000407541.1:n.*260C>T | |
| ENST00000545369.2:c.*38C>T | ENSP00000442735.2:n.*38C>T | |
| NM_005534.3:c.285C>T , LRG_67t1:c.285C>T | NP_005525.2:p.Asp95= | |
| XM_005260969.2:c.342C>T | XP_005261026.1:p.Asp114= | |
| XM_011529553.1:c.360C>T | XP_011527855.1:p.Asp120= | |
| XM_011529554.1:c.291C>T | XP_011527856.1:p.Asp97= | |
| NM_001329128.1:c.342C>T | NP_001316057.1:p.Asp114= | |
| XM_011529554.2:c.291C>T | XP_011527856.1:p.Asp97= | |
| NM_001329128.2:c.342C>T | NP_001316057.1:p.Asp114= | |
| NM_005534.4:c.285C>T MANE Select | NP_005525.2:p.Asp95= |