Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30313856A= , CM000672.2:g.30313856A= | GRCh38 |
| NC_000010.10:g.30602785A= , CM000672.1:g.30602785A= | GRCh37 |
| NC_000010.9:g.30642791A= | NCBI36 |
| NG_028096.1:g.40483T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263063.9:c.1502T= MANE Select | ENSP00000263063.3:p.Leu501= | |
| ENST00000263063.8:c.1502T= | ENSP00000263063.3:p.Leu501= | |
| ENST00000488290.5:n.3257T= | ||
| NM_018109.3:c.1502T= | NP_060579.3:p.Leu501= | |
| NM_018109.4:c.1502T= MANE Select | NP_060579.3:p.Leu501= |