Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128261849C= , CM000667.2:g.128261849C= | GRCh38 |
| NC_000005.9:g.127597541C= , CM000667.1:g.127597541C= | GRCh37 |
| NC_000005.8:g.127625440C= | NCBI36 |
| NG_008750.1:g.281195G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.8251G= MANE Select | ENSP00000262464.4:p.Val2751= | |
| ENST00000262464.8:c.8251G= | ENSP00000262464.4:p.Val2751= | |
| ENST00000508053.5:c.8251G= | ENSP00000424571.1:p.Val2751= | |
| ENST00000619499.4:c.8248G= | ENSP00000482132.1:p.Val2750= | |
| NM_001999.3:c.8251G= | NP_001990.2:p.Val2751= | |
| XM_017009228.2:c.8098G= | XP_016864717.1:p.Val2700= | |
| NM_001999.4:c.8251G= MANE Select | NP_001990.2:p.Val2751= |