Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816245T= , CM000681.2:g.4816245T= | GRCh38 |
| NC_000019.9:g.4816257T= , CM000681.1:g.4816257T= | GRCh37 |
| NC_000019.8:g.4767257T= | NCBI36 |
| NG_031998.1:g.20498A= , LRG_358:g.20498A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.2133A= MANE Select | ENSP00000248244.4:p.Ala711= | |
| ENST00000248244.5:c.2133A= | ENSP00000248244.4:p.Ala711= | |
| ENST00000621756.1:c.1635A= | ENSP00000479467.1:p.Ala545= | |
| NM_182919.3:c.2133A= , LRG_358t1:c.2133A= | NP_891549.1:p.Ala711= | |
| NM_001385678.1:c.2091A= | NP_001372607.1:p.Ala697= | |
| NM_001385679.1:c.1998A= | NP_001372608.1:p.Ala666= | |
| NM_001385680.1:c.1491A= | NP_001372609.1:p.Ala497= | |
| NM_182919.4:c.2133A= MANE Select | NP_891549.1:p.Ala711= |