Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.78304926T= , CM000671.2:g.78304926T= | GRCh38 |
| NC_000009.11:g.80919842T= , CM000671.1:g.80919842T= | GRCh37 |
| NC_000009.10:g.80109662T= | NCBI36 |
| NG_012165.1:g.12784T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376588.4:c.383T= MANE Select | ENSP00000365773.3:p.Leu128= | |
| ENST00000347159.6:c.383T= | ENSP00000317606.2:p.Leu128= | |
| ENST00000376588.3:c.383T= | ENSP00000365773.3:p.Leu128= | |
| NM_021154.4:c.383T= | NP_066977.1:p.Leu128= | |
| NM_058179.3:c.383T= | NP_478059.1:p.Leu128= | |
| NM_058179.4:c.383T= MANE Select | NP_478059.1:p.Leu128= | |
| NM_021154.5:c.383T= | NP_066977.1:p.Leu128= |