Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3926043T= , CM000681.2:g.3926043T= | GRCh38 |
| NC_000019.9:g.3926041T= , CM000681.1:g.3926041T= | GRCh37 |
| NC_000019.8:g.3877041T= | NCBI36 |
| NG_012638.1:g.50424T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450849.7:c.*1451T= MANE Select | ENSP00000390941.1:n.*1451T= | |
| ENST00000450849.6:c.*1451T= | ENSP00000390941.1:n.*1451T= | |
| ENST00000600960.1:c.2631T= | ENSP00000470842.1:n.2631T= | |
| ENST00000601323.1:n.440-215T= | ||
| NM_033064.4:c.*1451T= | NP_149053.1:n.*1451T= | |
| NM_033064.5:c.*1451T= MANE Select | NP_149053.1:n.*1451T= |