Linked Data
ClinVar Variation Id:
16396
dbSNP Id:
rs121909625
ExAC:
4:155486984 C / T
gnomAD v2:
4-155486984-C-T
gnomAD v3:
4-154565832-C-T
gnomAD v4:
4-154565832-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154565832C>T , CM000666.2:g.154565832C>T | GRCh38 |
| NC_000004.11:g.155486984C>T , CM000666.1:g.155486984C>T | GRCh37 |
| NC_000004.10:g.155706434C>T | NCBI36 |
| NG_008833.1:g.7853C>T , LRG_558:g.7853C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302068.9:c.139C>T MANE Select | ENSP00000306099.4:p.Arg47Ter | |
| ENST00000302068.8:c.139C>T | ENSP00000306099.4:p.Arg47Ter | |
| ENST00000425838.5:c.*51C>T | ENSP00000398719.1:n.*51C>T | |
| ENST00000473984.1:n.52C>T | ||
| ENST00000497097.5:n.146C>T | ||
| ENST00000498375.2:n.769C>T | ||
| ENST00000502545.5:n.120C>T | ||
| ENST00000509493.1:c.-167-1761C>T | ENSP00000426757.1:n.-167-1761C>T | |
| NM_001184741.1:c.139C>T | NP_001171670.1:p.Arg47Ter | |
| NM_005141.4:c.139C>T , LRG_558t1:c.139C>T | NP_005132.2:p.Arg47Ter | |
| NM_001382759.1:c.139C>T | NP_001369688.1:p.Arg47Ter | |
| NM_001382760.1:c.139C>T | NP_001369689.1:p.Arg47Ter | |
| NM_001382761.1:c.139C>T | NP_001369690.1:p.Arg47Ter | |
| NM_001382762.1:c.139C>T | NP_001369691.1:p.Arg47Ter | |
| NM_001382763.1:c.139C>T | NP_001369692.1:p.Arg47Ter | |
| NM_001382764.1:c.139C>T | NP_001369693.1:p.Arg47Ter | |
| NM_001382765.1:c.139C>T | NP_001369694.1:p.Arg47Ter | |
| NM_005141.5:c.139C>T MANE Select | NP_005132.2:p.Arg47Ter |