Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54999221T= , CM000663.2:g.54999221T= | GRCh38 |
| NC_000001.10:g.55464894T= , CM000663.1:g.55464894T= | GRCh37 |
| NC_000001.9:g.55237482T= | NCBI36 |
| NG_008965.1:g.5278T= | |
| NG_008965.2:g.5289T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651561.1:c.35T= MANE Select | ENSP00000498282.1:p.Ile12= | |
| ENST00000371265.4:c.35T= | ENSP00000360312.4:p.Ile12= | |
| NM_057176.2:c.35T= | NP_476517.1:p.Ile12= | |
| NM_057176.3:c.35T= MANE Select | NP_476517.1:p.Ile12= |