gnomAD v3:
gnomAD v4:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153694577C>T , CM000685.2:g.153694577C>T | GRCh38 |
| NC_000023.10:g.152960032C>T , CM000685.1:g.152960032C>T | GRCh37 |
| NC_000023.9:g.152613226C>T | NCBI36 |
| NG_012016.1:g.11281C>T | |
| NG_012016.2:g.11281C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1540C>T MANE Select | ENSP00000253122.5:p.Arg514Ter | |
| ENST00000253122.9:c.1540C>T | ENSP00000253122.5:p.Arg514Ter | |
| ENST00000430077.6:c.1195C>T | ENSP00000403041.2:p.Arg399Ter | |
| ENST00000485324.1:n.1847C>T | ||
| NM_001142805.1:c.1510C>T | NP_001136277.1:p.Arg504Ter | |
| NM_001142806.1:c.1195C>T | NP_001136278.1:p.Arg399Ter | |
| NM_005629.3:c.1540C>T | NP_005620.1:p.Arg514Ter | |
| NM_005629.4:c.1540C>T MANE Select | NP_005620.1:p.Arg514Ter | |
| NM_001142805.2:c.1510C>T | NP_001136277.1:p.Arg504Ter |