Linked Data
ClinVar Variation Id:
217231
dbSNP Id:
rs863225023
gnomAD v2:
7-75933395-C-T
gnomAD v3:
7-76304078-C-T
gnomAD v4:
7-76304078-C-T
PubMed:
PMID:22734906
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76304078C>T , CM000669.2:g.76304078C>T | GRCh38 |
| NC_000007.13:g.75933395C>T , CM000669.1:g.75933395C>T | GRCh37 |
| NC_000007.12:g.75771331C>T | NCBI36 |
| NG_008995.1:g.6521C>T , LRG_248:g.6521C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248553.7:c.523C>T MANE Select | ENSP00000248553.6:p.Gln175Ter | |
| ENST00000674547.1:c.*114C>T | ENSP00000502461.1:n.*114C>T | |
| ENST00000674638.1:c.*44C>T | ENSP00000502651.1:n.*44C>T | |
| ENST00000674650.1:c.*33C>T | ENSP00000501628.1:n.*33C>T | |
| ENST00000674965.1:c.*179C>T | ENSP00000501765.1:n.*179C>T | |
| ENST00000675134.1:c.502C>T | ENSP00000501831.1:p.Gln168Ter | |
| ENST00000675226.1:c.*33C>T | ENSP00000502510.1:n.*33C>T | |
| ENST00000675417.1:n.874C>T | ||
| ENST00000675538.1:c.*33C>T | ENSP00000502495.1:n.*33C>T | |
| ENST00000675906.1:c.*108C>T | ENSP00000502714.1:n.*108C>T | |
| ENST00000676231.1:c.553C>T | ENSP00000502249.1:p.Gln185Ter | |
| ENST00000248553.6:c.523C>T | ENSP00000248553.6:p.Gln175Ter | |
| ENST00000429938.1:c.19C>T | ENSP00000405285.1:p.Gln7Ter | |
| ENST00000447574.1:c.*687C>T | ENSP00000414357.1:n.*687C>T | |
| NM_001540.3:c.523C>T , LRG_248t1:c.523C>T | NP_001531.1:p.Gln175Ter | |
| NM_001540.4:c.523C>T | NP_001531.1:p.Gln175Ter | |
| NM_001540.5:c.523C>T MANE Select | NP_001531.1:p.Gln175Ter |