Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.22245125G= , CM000684.2:g.22245125G= | GRCh38 |
| NC_000022.10:g.22599537G= , CM000684.1:g.22599537G= | GRCh37 |
| NC_000022.9:g.20929537G= | NCBI36 |
| NG_029387.2:g.5336G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007128.4:c.226G= MANE Select | NP_009059.1:p.Asp76= |
| ENST00000403807.4:c.226G= MANE Select | ENSP00000385361.3:p.Asp76= |
| NM_001303509.1:c.223G= | NP_001290438.1:p.Asp75= |
| NM_001303509.2:c.223G= | NP_001290438.1:p.Asp75= |
| NM_007128.3:c.226G= | NP_009059.1:p.Asp76= |
| ENST00000302273.2:c.223G= | ENSP00000304590.2:p.Asp75= |
| ENST00000403807.3:c.226G= | ENSP00000385361.3:p.Asp76= |