ClinVar Variation:
dbSNP:
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47374035C>T , CM000664.2:g.47374035C>T | GRCh38 |
| NC_000002.11:g.47601174C>T , CM000664.1:g.47601174C>T | GRCh37 |
| NC_000002.10:g.47454678C>T | NCBI36 |
| NG_012352.2:g.33873C>T , LRG_215:g.33873C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263735.9:c.412C>T MANE Select | ENSP00000263735.4:p.Arg138Ter | |
| ENST00000263735.8:c.412C>T | ENSP00000263735.4:p.Arg138Ter | |
| ENST00000405271.5:c.496C>T | ENSP00000385476.1:p.Arg166Ter | |
| ENST00000456133.5:c.496C>T | ENSP00000410675.1:p.Arg166Ter | |
| ENST00000474691.1:n.680C>T | ||
| ENST00000490733.1:n.261C>T | ||
| NM_002354.2:c.412C>T , LRG_215t1:c.412C>T | NP_002345.2:p.Arg138Ter | |
| NM_002354.3:c.412C>T MANE Select | NP_002345.2:p.Arg138Ter |