Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44942853T= , CM000664.2:g.44942853T= | GRCh38 |
| NC_000002.11:g.45169992T= , CM000664.1:g.45169992T= | GRCh37 |
| NC_000002.10:g.45023496T= | NCBI36 |
| NG_016222.1:g.5956T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005413.4:c.749T= MANE Select | NP_005404.1:p.Val250= |
| ENST00000260653.5:c.749T= MANE Select | ENSP00000260653.3:p.Val250= |
| NM_005413.3:c.749T= | NP_005404.1:p.Val250= |
| ENST00000260653.4:c.749T= | ENSP00000260653.3:p.Val250= |
| XM_011533042.1:c.749T= | XP_011531344.1:p.Val250= |