Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169493695T= , CM000664.2:g.169493695T= | GRCh38 |
| NC_000002.11:g.170350205T= , CM000664.1:g.170350205T= | GRCh37 |
| NC_000002.10:g.170058451T= | NCBI36 |
| NG_011567.1:g.19200T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152384.3:c.523-46T= MANE Select | NP_689597.1:n.523-46T= |
| ENST00000295240.8:c.523-46T= MANE Select | ENSP00000295240.3:n.523-46T= |
| NM_152384.2:c.523-46T= | NP_689597.1:n.523-46T= |
| ENST00000295240.7:c.523-46T= | ENSP00000295240.3:n.523-46T= |
| ENST00000392663.6:c.523-46T= | ENSP00000376431.2:n.523-46T= |
| ENST00000443151.1:c.*245-46T= | ENSP00000406182.1:n.*245-46T= |
| ENST00000513963.1:c.523-46T= | ENSP00000424363.1:n.523-46T= |