Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350540C= , CM000672.2:g.47350540C= | GRCh38 |
| NC_000010.10:g.48388822G= , CM000672.1:g.48388822G= | GRCh37 |
| NC_000010.9:g.48008828G= | NCBI36 |
| NG_029718.1:g.7170C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.2056C= MANE Select | ENSP00000463151.1:p.Leu686= | |
| ENST00000584701.1:c.2056C= | ENSP00000463151.1:p.Leu686= | |
| NM_002900.2:c.2056C= | NP_002891.1:p.Leu686= | |
| NM_002900.3:c.2056C= MANE Select | NP_002891.1:p.Leu686= |