Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3926022T= , CM000681.2:g.3926022T= | GRCh38 |
| NC_000019.9:g.3926020T= , CM000681.1:g.3926020T= | GRCh37 |
| NC_000019.8:g.3877020T= | NCBI36 |
| NG_012638.1:g.50403T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450849.7:c.*1430T= MANE Select | ENSP00000390941.1:n.*1430T= | |
| ENST00000450849.6:c.*1430T= | ENSP00000390941.1:n.*1430T= | |
| ENST00000600960.1:c.2610T= | ENSP00000470842.1:n.2610T= | |
| ENST00000601323.1:n.440-236T= | ||
| NM_033064.4:c.*1430T= | NP_149053.1:n.*1430T= | |
| NM_033064.5:c.*1430T= MANE Select | NP_149053.1:n.*1430T= |