Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153694577C= , CM000685.2:g.153694577C= | GRCh38 |
| NC_000023.10:g.152960032C= , CM000685.1:g.152960032C= | GRCh37 |
| NC_000023.9:g.152613226C= | NCBI36 |
| NG_012016.1:g.11281C= | |
| NG_012016.2:g.11281C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1540C= MANE Select | ENSP00000253122.5:p.Arg514= | |
| ENST00000253122.9:c.1540C= | ENSP00000253122.5:p.Arg514= | |
| ENST00000430077.6:c.1195C= | ENSP00000403041.2:p.Arg399= | |
| ENST00000485324.1:n.1847C= | ||
| NM_001142805.1:c.1510C= | NP_001136277.1:p.Arg504= | |
| NM_001142806.1:c.1195C= | NP_001136278.1:p.Arg399= | |
| NM_005629.3:c.1540C= | NP_005620.1:p.Arg514= | |
| NM_005629.4:c.1540C= MANE Select | NP_005620.1:p.Arg514= | |
| NM_001142805.2:c.1510C= | NP_001136277.1:p.Arg504= |