Linked Data
ClinVar Variation Id:
14057
dbSNP Id:
rs768050261
ExAC:
11:67376042 C / T
gnomAD v2:
11-67376042-C-T
gnomAD v4:
11-67608571-C-T
PubMed:
PMID:10080174
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67608571C>T , CM000673.2:g.67608571C>T | GRCh38 |
| NC_000011.9:g.67376042C>T , CM000673.1:g.67376042C>T | GRCh37 |
| NC_000011.8:g.67132618C>T | NCBI36 |
| NG_013353.1:g.6720C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.175C>T MANE Select | ENSP00000322450.6:p.Arg59Ter | |
| ENST00000647561.1:c.175C>T | ENSP00000497587.1:p.Arg59Ter | |
| ENST00000322776.10:c.175C>T | ENSP00000322450.6:p.Arg59Ter | |
| ENST00000415352.6:c.154C>T | ENSP00000395368.2:p.Arg52Ter | |
| ENST00000524838.5:n.232C>T | ||
| ENST00000524876.5:n.487C>T | ||
| ENST00000525086.5:n.222C>T | ||
| ENST00000526770.5:n.34C>T | ||
| ENST00000528314.1:c.-129C>T | ENSP00000434581.1:n.-129C>T | |
| ENST00000528328.1:c.124C>T | ENSP00000436906.1:p.Arg42Ter | |
| ENST00000528377.1:n.346C>T | ||
| ENST00000528548.5:n.544C>T | ||
| ENST00000529867.5:c.139C>T | ENSP00000434438.1:p.Arg47Ter | |
| ENST00000529927.5:c.148C>T | ENSP00000436766.1:p.Arg50Ter | |
| ENST00000530014.5:n.470C>T | ||
| ENST00000530103.5:c.*69C>T | ENSP00000434575.1:n.*69C>T | |
| ENST00000530638.1:c.58C>T | ENSP00000436936.1:p.Arg20Ter | |
| ENST00000532244.5:c.-129C>T | ENSP00000435202.1:n.-129C>T | |
| ENST00000532303.5:c.-129C>T | ENSP00000432015.1:n.-129C>T | |
| ENST00000532343.5:c.-129C>T | ENSP00000431751.1:n.-129C>T | |
| ENST00000533075.5:c.154C>T | ENSP00000437267.1:p.Arg52Ter | |
| ENST00000534139.5:n.291C>T | ||
| NM_001166102.1:c.148C>T | NP_001159574.1:p.Arg50Ter | |
| NM_007103.3:c.175C>T | NP_009034.2:p.Arg59Ter | |
| NM_001166102.2:c.148C>T | NP_001159574.1:p.Arg50Ter | |
| NM_007103.4:c.175C>T MANE Select | NP_009034.2:p.Arg59Ter |