Linked Data
ClinVar Variation Id:
253306
ClinVar RCV Id:
RCV000240043
dbSNP Id:
rs748090019
ExAC:
20:42233652 C / T
gnomAD v2:
20-42233652-C-T
gnomAD v3:
20-43605012-C-T
gnomAD v4:
20-43605012-C-T
PubMed:
PMID:26880018
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.43605012C>T , CM000682.2:g.43605012C>T | GRCh38 |
| NC_000020.10:g.42233652C>T , CM000682.1:g.42233652C>T | GRCh37 |
| NC_000020.9:g.41667066C>T | NCBI36 |
| NG_051913.1:g.19400C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373030.8:c.424C>T MANE Select | ENSP00000362121.3:p.Arg142Ter | |
| ENST00000373030.7:c.424C>T | ENSP00000362121.3:p.Arg142Ter | |
| ENST00000373039.4:c.424C>T | ENSP00000362130.4:p.Arg142Ter | |
| ENST00000476986.1:n.103C>T | ||
| ENST00000486243.1:n.195C>T | ||
| NM_001303458.1:c.424C>T | NP_001290387.1:p.Arg142Ter | |
| NM_001303459.1:c.424C>T | NP_001290388.1:p.Arg142Ter | |
| NM_016004.3:c.424C>T | NP_057088.2:p.Arg142Ter | |
| NM_001303458.2:c.424C>T | NP_001290387.1:p.Arg142Ter | |
| NM_001303459.2:c.424C>T | NP_001290388.1:p.Arg142Ter | |
| NM_001323578.1:c.-248C>T | NP_001310507.1:n.-248C>T | |
| NM_001323579.1:c.-341C>T | NP_001310508.1:n.-341C>T | |
| NM_001323580.1:c.-248C>T | NP_001310509.1:n.-248C>T | |
| NM_001323581.1:c.-341C>T | NP_001310510.1:n.-341C>T | |
| NM_016004.4:c.424C>T | NP_057088.2:p.Arg142Ter | |
| XM_017027863.2:c.-484C>T | XP_016883352.1:n.-484C>T | |
| NM_001303458.3:c.424C>T | NP_001290387.1:p.Arg142Ter | |
| NM_001303459.3:c.424C>T | NP_001290388.1:p.Arg142Ter | |
| NM_001323578.2:c.-248C>T | NP_001310507.1:n.-248C>T | |
| NM_001323579.2:c.-341C>T | NP_001310508.1:n.-341C>T | |
| NM_001323580.2:c.-248C>T | NP_001310509.1:n.-248C>T | |
| NM_001323581.2:c.-341C>T | NP_001310510.1:n.-341C>T | |
| NM_016004.5:c.424C>T MANE Select | NP_057088.2:p.Arg142Ter |