Linked Data
ClinVar Variation Id:
6889
dbSNP Id:
rs104893898
gnomAD v2:
5-52942201-C-T
gnomAD v4:
5-53646371-C-T
PubMed:
PMID:10944442
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53646371C>T , CM000667.2:g.53646371C>T | GRCh38 |
| NC_000005.9:g.52942201C>T , CM000667.1:g.52942201C>T | GRCh37 |
| NC_000005.8:g.52977958C>T | NCBI36 |
| NG_008200.1:g.90737C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296684.10:c.316C>T MANE Select | ENSP00000296684.5:p.Arg106Ter | |
| ENST00000296684.9:c.316C>T | ENSP00000296684.5:p.Arg106Ter | |
| ENST00000502423.5:c.*183C>T | ENSP00000422177.1:n.*183C>T | |
| ENST00000506765.1:c.304C>T | ENSP00000424570.1:p.Arg102Ter | |
| ENST00000506974.5:c.*92C>T | ENSP00000425967.1:n.*92C>T | |
| ENST00000507026.5:c.*290C>T | ENSP00000424993.1:n.*290C>T | |
| ENST00000509443.1:n.177C>T | ||
| NM_002495.2:c.316C>T | NP_002486.1:p.Arg106Ter | |
| XM_005248525.3:c.316C>T | XP_005248582.1:p.Arg106Ter | |
| XM_011543415.1:c.142C>T | XP_011541717.1:p.Arg48Ter | |
| NM_001318051.1:c.316C>T | NP_001304980.1:p.Arg106Ter | |
| NM_002495.3:c.316C>T | NP_002486.1:p.Arg106Ter | |
| NR_134473.1:n.518C>T | ||
| NR_134474.1:n.435C>T | ||
| NR_134475.1:n.470C>T | ||
| NM_002495.4:c.316C>T MANE Select | NP_002486.1:p.Arg106Ter | |
| NM_001318051.2:c.316C>T | NP_001304980.1:p.Arg106Ter | |
| NR_134473.2:n.512C>T | ||
| NR_134474.2:n.429C>T | ||
| NR_134475.2:n.464C>T |