Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94981201T= , CM000672.2:g.94981201T= | GRCh38 |
| NC_000010.10:g.96740958T= , CM000672.1:g.96740958T= | GRCh37 |
| NC_000010.9:g.96730948T= | NCBI36 |
| NG_008385.1:g.47544T= | |
| NG_008385.2:g.48044T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.980T= MANE Select | ENSP00000260682.6:p.Ile327= | |
| ENST00000643112.1:c.838T= | ENSP00000496202.1:p.Leu280= | |
| ENST00000260682.6:c.980T= | ENSP00000260682.6:p.Ile327= | |
| NM_000771.3:c.980T= | NP_000762.2:p.Ile327= | |
| NM_000771.4:c.980T= MANE Select | NP_000762.2:p.Ile327= |