Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133647854G= , CM000671.2:g.133647854G= | GRCh38 |
| NC_000009.11:g.136512976G= , CM000671.1:g.136512976G= | GRCh37 |
| NC_000009.10:g.135502797G= | NCBI36 |
| NG_008645.1:g.16492G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000787.4:c.1033G= MANE Select | NP_000778.3:p.Asp345= |
| ENST00000393056.8:c.1033G= MANE Select | ENSP00000376776.2:p.Asp345= |
| NM_000787.3:c.1033G= | NP_000778.3:p.Asp345= |
| ENST00000393056.6:c.1033G= | ENSP00000376776.2:p.Asp345= |