Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816779A= , CM000681.2:g.4816779A= | GRCh38 |
| NC_000019.9:g.4816791A= , CM000681.1:g.4816791A= | GRCh37 |
| NC_000019.8:g.4767791A= | NCBI36 |
| NG_031998.1:g.19964T= , LRG_358:g.19964T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1599T= MANE Select | ENSP00000248244.4:p.Leu533= | |
| ENST00000248244.5:c.1599T= | ENSP00000248244.4:p.Leu533= | |
| ENST00000621756.1:c.1182T= | ENSP00000479467.1:p.Leu394= | |
| NM_182919.3:c.1599T= , LRG_358t1:c.1599T= | NP_891549.1:p.Leu533= | |
| NM_001385678.1:c.1557T= | NP_001372607.1:p.Leu519= | |
| NM_001385679.1:c.1464T= | NP_001372608.1:p.Leu488= | |
| NM_001385680.1:c.957T= | NP_001372609.1:p.Leu319= | |
| NM_182919.4:c.1599T= MANE Select | NP_891549.1:p.Leu533= |