Linked Data
ClinVar Variation Id:
1099826
ClinVar RCV Id:
RCV001422231
dbSNP Id:
rs761956946
ExAC:
21:34793955 C / T
gnomAD v2:
21-34793955-C-T
gnomAD v3:
21-33421648-C-T
gnomAD v4:
21-33421648-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33421648C>T , CM000683.2:g.33421648C>T | GRCh38 |
| NC_000021.8:g.34793955C>T , CM000683.1:g.34793955C>T | GRCh37 |
| NC_000021.7:g.33715825C>T | NCBI36 |
| NG_007570.2:g.41657C>T , LRG_67:g.41657C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696724.1:c.270C>T | ENSP00000512835.1:p.Ala90= | |
| ENST00000290219.11:c.375C>T MANE Select | ENSP00000290219.5:p.Ala125= | |
| ENST00000290219.10:c.375C>T | ENSP00000290219.5:p.Ala125= | |
| ENST00000381995.5:c.432C>T | ENSP00000371425.1:p.Ala144= | |
| ENST00000405436.5:c.138C>T | ENSP00000385044.1:p.Ala46= | |
| ENST00000439213.5:c.*350C>T | ENSP00000407541.1:n.*350C>T | |
| ENST00000545369.2:c.*128C>T | ENSP00000442735.2:n.*128C>T | |
| NM_005534.3:c.375C>T , LRG_67t1:c.375C>T | NP_005525.2:p.Ala125= | |
| XM_005260969.2:c.432C>T | XP_005261026.1:p.Ala144= | |
| XM_011529553.1:c.450C>T | XP_011527855.1:p.Ala150= | |
| XM_011529554.1:c.381C>T | XP_011527856.1:p.Ala127= | |
| NM_001329128.1:c.432C>T | NP_001316057.1:p.Ala144= | |
| XM_011529554.2:c.381C>T | XP_011527856.1:p.Ala127= | |
| NM_001329128.2:c.432C>T | NP_001316057.1:p.Ala144= | |
| NM_005534.4:c.375C>T MANE Select | NP_005525.2:p.Ala125= |