Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814182A= , CM000671.2:g.129814182A= | GRCh38 |
| NC_000009.11:g.132576461A= , CM000671.1:g.132576461A= | GRCh37 |
| NC_000009.10:g.131616282A= | NCBI36 |
| NG_008049.1:g.14981T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.789T= MANE Select | ENSP00000345719.4:p.Ile263= | |
| ENST00000651202.1:c.*57T= | ENSP00000498222.1:n.*57T= | |
| ENST00000351698.4:c.789T= | ENSP00000345719.4:p.Ile263= | |
| ENST00000474192.1:n.373T= | ||
| NM_000113.2:c.789T= | NP_000104.1:p.Ile263= | |
| XR_929731.1:n.1116T= | ||
| XR_929731.3:n.984T= | ||
| NM_000113.3:c.789T= MANE Select | NP_000104.1:p.Ile263= |