Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17600079A= , CM000684.2:g.17600079A= | GRCh38 |
| NC_000022.10:g.18082845A= , CM000684.1:g.18082845A= | GRCh37 |
| NC_000022.9:g.16462845A= | NCBI36 |
| NG_009214.1:g.33744T= | |
| NG_009214.2:g.33744T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001696.4:c.383T= MANE Select | NP_001687.1:p.Leu128= |
| ENST00000253413.10:c.383T= MANE Select | ENSP00000253413.5:p.Leu128= |
| NM_001039366.1:c.317T= | NP_001034455.1:p.Leu106= |
| NM_001039367.1:c.293T= | NP_001034456.1:p.Leu98= |
| NM_001696.3:c.383T= | NP_001687.1:p.Leu128= |
| ENST00000253413.9:c.383T= | ENSP00000253413.5:p.Leu128= |
| ENST00000399796.6:c.293T= | ENSP00000382694.2:p.Leu98= |
| ENST00000399798.6:c.317T= | ENSP00000382696.2:p.Leu106= |
| ENST00000413576.1:c.386T= | ENSP00000398932.1:p.Leu129= |
| ENST00000481365.5:n.352T= |