Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.58496605T>A , CM000670.2:g.58496605T>A | GRCh38 |
| NC_000008.10:g.59409164T>A , CM000670.1:g.59409164T>A | GRCh37 |
| NC_000008.9:g.59571718T>A | NCBI36 |
| NG_007969.1:g.8558A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301645.4:c.907A>T MANE Select | ENSP00000301645.3:p.Arg303Trp | |
| ENST00000301645.3:c.907A>T | ENSP00000301645.3:p.Arg303Trp | |
| NM_000780.3:c.907A>T | NP_000771.2:p.Arg303Trp | |
| XM_011517476.1:c.907A>T | XP_011515778.1:p.Arg303Trp | |
| NM_000780.4:c.907A>T MANE Select | NP_000771.2:p.Arg303Trp |