Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17108378G= , CM000684.2:g.17108378G= | GRCh38 |
| NC_000022.10:g.17589268G= , CM000684.1:g.17589268G= | GRCh37 |
| NC_000022.9:g.15969268G= | NCBI36 |
| NG_028257.1:g.28418G= , LRG_355:g.28418G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014339.7:c.1159G= MANE Select | NP_055154.3:p.Asp387= |
| ENST00000319363.11:c.1159G= MANE Select | ENSP00000320936.6:p.Asp387= |
| NM_001289905.1:c.1057G= | NP_001276834.1:p.Asp353= |
| NM_001289905.2:c.1057G= | NP_001276834.1:p.Asp353= |
| NM_014339.6:c.1159G= , LRG_355t1:c.1159G= | NP_055154.3:p.Asp387= |
| ENST00000319363.10:c.1159G= | ENSP00000320936.6:p.Asp387= |
| ENST00000612619.1:c.1057G= | ENSP00000479970.1:p.Asp353= |
| ENST00000612619.2:c.1057G= | ENSP00000479970.1:p.Asp353= |