Linked Data
ClinVar Variation Id:
493007
dbSNP Id:
rs200177031
ExAC:
13:40251687 C / T
gnomAD v2:
13-40251687-C-T
gnomAD v3:
13-39677550-C-T
gnomAD v4:
13-39677550-C-T
PubMed:
PMID:26260076
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.39677550C>T , CM000675.2:g.39677550C>T | GRCh38 |
| NC_000013.10:g.40251687C>T , CM000675.1:g.40251687C>T | GRCh37 |
| NC_000013.9:g.39149687C>T | NCBI36 |
| NG_028352.1:g.26924C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455146.8:c.511C>T MANE Select | ENSP00000397441.2:p.Arg171Ter | |
| ENST00000356576.8:c.*348C>T | ENSP00000348983.4:n.*348C>T | |
| ENST00000416691.5:c.511C>T | ENSP00000403733.1:p.Arg171Ter | |
| ENST00000422759.6:n.576C>T | ||
| ENST00000455146.7:c.511C>T | ENSP00000397441.2:p.Arg171Ter | |
| ENST00000536488.5:c.326C>T | ||
| ENST00000543804.5:c.*272C>T | ENSP00000440473.1:n.*272C>T | |
| NM_001145079.1:c.511C>T | NP_001138551.1:p.Arg171Ter | |
| NM_020751.2:c.511C>T | NP_065802.1:p.Arg171Ter | |
| NR_026745.1:n.676C>T | ||
| XM_011535168.1:c.511C>T | XP_011533470.1:p.Arg171Ter | |
| XM_011535169.1:c.355C>T | XP_011533471.1:p.Arg119Ter | |
| XM_011535170.1:c.355C>T | XP_011533472.1:p.Arg119Ter | |
| NM_020751.3:c.511C>T MANE Select | NP_065802.1:p.Arg171Ter | |
| NM_001145079.2:c.511C>T | NP_001138551.1:p.Arg171Ter |