Linked Data
ClinVar Variation Id:
1078979
ClinVar RCV Id:
RCV001394117
dbSNP Id:
rs2083842693
MyVariant Identifiers:
chr21:g.34799243C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33426936C>T , CM000683.2:g.33426936C>T | GRCh38 |
| NC_000021.8:g.34799243C>T , CM000683.1:g.34799243C>T | GRCh37 |
| NC_000021.7:g.33721113C>T | NCBI36 |
| NG_007570.2:g.46945C>T , LRG_67:g.46945C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696724.1:c.456C>T | ENSP00000512835.1:p.Leu152= | |
| ENST00000290219.11:c.465C>T MANE Select | ENSP00000290219.5:p.Leu155= | |
| ENST00000290219.10:c.465C>T | ENSP00000290219.5:p.Leu155= | |
| ENST00000381995.5:c.522C>T | ENSP00000371425.1:p.Leu174= | |
| ENST00000405436.5:c.228C>T | ENSP00000385044.1:p.Leu76= | |
| ENST00000439213.5:c.*440C>T | ENSP00000407541.1:n.*440C>T | |
| ENST00000545369.2:c.*218C>T | ENSP00000442735.2:n.*218C>T | |
| NM_005534.3:c.465C>T , LRG_67t1:c.465C>T | NP_005525.2:p.Leu155= | |
| XM_005260969.2:c.522C>T | XP_005261026.1:p.Leu174= | |
| XM_011529553.1:c.540C>T | XP_011527855.1:p.Leu180= | |
| XM_011529554.1:c.471C>T | XP_011527856.1:p.Leu157= | |
| NM_001329128.1:c.522C>T | NP_001316057.1:p.Leu174= | |
| XM_011529554.2:c.471C>T | XP_011527856.1:p.Leu157= | |
| NM_001329128.2:c.522C>T | NP_001316057.1:p.Leu174= | |
| NM_005534.4:c.465C>T MANE Select | NP_005525.2:p.Leu155= |