Linked Data
ClinVar Variation Id:
447531
dbSNP Id:
rs1422978230
gnomAD v4:
7-76304094-C-T
PubMed:
PMID:20870250
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76304094C>T , CM000669.2:g.76304094C>T | GRCh38 |
| NC_000007.13:g.75933411C>T , CM000669.1:g.75933411C>T | GRCh37 |
| NC_000007.12:g.75771347C>T | NCBI36 |
| NG_008995.1:g.6537C>T , LRG_248:g.6537C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248553.7:c.539C>T MANE Select | ENSP00000248553.6:p.Thr180Ile | |
| ENST00000674547.1:c.*130C>T | ENSP00000502461.1:n.*130C>T | |
| ENST00000674638.1:c.*60C>T | ENSP00000502651.1:n.*60C>T | |
| ENST00000674650.1:c.*49C>T | ENSP00000501628.1:n.*49C>T | |
| ENST00000674965.1:c.*195C>T | ENSP00000501765.1:n.*195C>T | |
| ENST00000675134.1:c.518C>T | ENSP00000501831.1:p.Thr173Ile | |
| ENST00000675226.1:c.*49C>T | ENSP00000502510.1:n.*49C>T | |
| ENST00000675417.1:n.890C>T | ||
| ENST00000675538.1:c.*49C>T | ENSP00000502495.1:n.*49C>T | |
| ENST00000675906.1:c.*124C>T | ENSP00000502714.1:n.*124C>T | |
| ENST00000676231.1:c.569C>T | ENSP00000502249.1:p.Thr190Ile | |
| ENST00000248553.6:c.539C>T | ENSP00000248553.6:p.Thr180Ile | |
| ENST00000429938.1:c.35C>T | ENSP00000405285.1:p.Thr12Ile | |
| ENST00000447574.1:c.*703C>T | ENSP00000414357.1:n.*703C>T | |
| NM_001540.3:c.539C>T , LRG_248t1:c.539C>T | NP_001531.1:p.Thr180Ile | |
| NM_001540.4:c.539C>T | NP_001531.1:p.Thr180Ile | |
| NM_001540.5:c.539C>T MANE Select | NP_001531.1:p.Thr180Ile |