Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60372181T= , CM000680.2:g.60372181T= | GRCh38 |
| NC_000018.9:g.58039414T= , CM000680.1:g.58039414T= | GRCh37 |
| NC_000018.8:g.56190394T= | NCBI36 |
| NG_016441.1:g.5588A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.169A= MANE Select | ENSP00000299766.3:p.Ile57= | |
| ENST00000299766.4:c.169A= | ENSP00000299766.3:p.Ile57= | |
| NM_005912.2:c.169A= | NP_005903.2:p.Ile57= | |
| NM_005912.3:c.169A= MANE Select | NP_005903.2:p.Ile57= |