Linked Data
ClinVar Variation Id:
1365078
ClinVar RCV Id:
RCV001942568
dbSNP Id:
rs1208240776
gnomAD v2:
21-34793807-C-T
gnomAD v4:
21-33421500-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33421500C>T , CM000683.2:g.33421500C>T | GRCh38 |
| NC_000021.8:g.34793807C>T , CM000683.1:g.34793807C>T | GRCh37 |
| NC_000021.7:g.33715677C>T | NCBI36 |
| NG_007570.2:g.41509C>T , LRG_67:g.41509C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696724.1:c.122C>T | ENSP00000512835.1:p.Thr41Met | |
| ENST00000290219.11:c.227C>T MANE Select | ENSP00000290219.5:p.Thr76Met | |
| ENST00000290219.10:c.227C>T | ENSP00000290219.5:p.Thr76Met | |
| ENST00000381995.5:c.284C>T | ENSP00000371425.1:p.Thr95Met | |
| ENST00000405436.5:c.-11C>T | ENSP00000385044.1:n.-11C>T | |
| ENST00000439213.5:c.*202C>T | ENSP00000407541.1:n.*202C>T | |
| ENST00000545369.2:c.94C>T | ENSP00000442735.2:p.Arg32Trp | |
| NM_005534.3:c.227C>T , LRG_67t1:c.227C>T | NP_005525.2:p.Thr76Met | |
| XM_005260969.2:c.284C>T | XP_005261026.1:p.Thr95Met | |
| XM_011529553.1:c.302C>T | XP_011527855.1:p.Thr101Met | |
| XM_011529554.1:c.233C>T | XP_011527856.1:p.Thr78Met | |
| NM_001329128.1:c.284C>T | NP_001316057.1:p.Thr95Met | |
| XM_011529554.2:c.233C>T | XP_011527856.1:p.Thr78Met | |
| NM_001329128.2:c.284C>T | NP_001316057.1:p.Thr95Met | |
| NM_005534.4:c.227C>T MANE Select | NP_005525.2:p.Thr76Met |