Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60372103T= , CM000680.2:g.60372103T= | GRCh38 |
| NC_000018.9:g.58039336T= , CM000680.1:g.58039336T= | GRCh37 |
| NC_000018.8:g.56190316T= | NCBI36 |
| NG_016441.1:g.5666A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299766.5:c.247A= MANE Select | ENSP00000299766.3:p.Ile83= | |
| ENST00000299766.4:c.247A= | ENSP00000299766.3:p.Ile83= | |
| NM_005912.2:c.247A= | NP_005903.2:p.Ile83= | |
| NM_005912.3:c.247A= MANE Select | NP_005903.2:p.Ile83= |