Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57236105G= , CM000673.2:g.57236105G= | GRCh38 |
| NC_000011.9:g.57003579G= , CM000673.1:g.57003579G= | GRCh37 |
| NC_000011.8:g.56760155G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005161.6:c.900C= MANE Select | NP_005152.1:p.Val300= |
| ENST00000606794.2:c.900C= MANE Select | ENSP00000475344.1:p.Val300= |
| NM_005161.4:c.900C= | NP_005152.1:p.Val300= |
| NR_027991.1:n.1349C= | |
| NR_027991.2:n.1146C= | |
| ENST00000257254.3:c.900C= | ENSP00000257254.3:p.Val300= |
| ENST00000606794.1:c.900C= | ENSP00000475344.1:p.Val300= |
| ENST00000611099.1:c.900C= | ENSP00000477818.1:p.Val300= |