Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110913293T= , CM000674.2:g.110913293T= | GRCh38 |
| NC_000012.11:g.111351097T= , CM000674.1:g.111351097T= | GRCh37 |
| NC_000012.10:g.109835480T= | NCBI36 |
| NG_007554.1:g.12285A= , LRG_393:g.12285A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.306A= MANE Select | ENSP00000228841.8:p.Ala102= | |
| ENST00000663220.1:c.249A= | ENSP00000499568.1:p.Ala83= | |
| ENST00000228841.12:c.306A= | ENSP00000228841.7:p.Ala102= | |
| ENST00000548438.1:c.264A= | ENSP00000447154.1:p.Ala88= | |
| ENST00000549029.1:n.137A= | ||
| NM_000432.3:c.306A= , LRG_393t1:c.306A= | NP_000423.2:p.Ala102= | |
| NM_000432.4:c.306A= MANE Select | NP_000423.2:p.Ala102= |