Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40846048G= , CM000681.2:g.40846048G= | GRCh38 |
| NC_000019.9:g.41351953G= , CM000681.1:g.41351953G= | GRCh37 |
| NC_000019.8:g.46043793G= | NCBI36 |
| NG_008377.1:g.9400C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000762.6:c.881C= MANE Select | NP_000753.3:p.Thr294= |
| ENST00000301141.10:c.881C= MANE Select | ENSP00000301141.4:p.Thr294= |
| NM_000762.5:c.881C= | NP_000753.3:p.Thr294= |
| ENST00000301141.9:c.881C= | ENSP00000301141.4:p.Thr294= |
| ENST00000596719.5:n.732C= | |
| ENST00000600495.1:c.*693C= | ENSP00000472905.1:n.*693C= |
| ENST00000601627.1:c.119+44633G= | |
| ENST00000610301.1:c.881C= | ENSP00000477899.1:p.Thr294= |