Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529173C= , CM000681.2:g.7529173C= | GRCh38 |
| NC_000019.9:g.7594059C= , CM000681.1:g.7594059C= | GRCh37 |
| NC_000019.8:g.7500059C= | NCBI36 |
| NG_013374.1:g.22C= | |
| NG_015806.1:g.11564C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020533.3:c.1207C= MANE Select | NP_065394.1:p.Arg403= |
| ENST00000264079.11:c.1207C= MANE Select | ENSP00000264079.5:p.Arg403= |
| NM_020533.2:c.1207C= | NP_065394.1:p.Arg403= |
| ENST00000264079.10:c.1207C= | ENSP00000264079.5:p.Arg403= |
| ENST00000394321.9:n.1522C= | |
| ENST00000594692.1:n.203C= | |
| ENST00000595860.5:n.390C= | |
| ENST00000599334.1:c.84C= |