Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7530373C= , CM000681.2:g.7530373C= | GRCh38 |
| NC_000019.9:g.7595259C= , CM000681.1:g.7595259C= | GRCh37 |
| NC_000019.8:g.7501259C= | NCBI36 |
| NG_013374.1:g.1222C= | |
| NG_015806.1:g.12764C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020533.3:c.1447C= MANE Select | NP_065394.1:p.Gln483= |
| ENST00000264079.11:c.1447C= MANE Select | ENSP00000264079.5:p.Gln483= |
| NM_020533.2:c.1447C= | NP_065394.1:p.Gln483= |
| ENST00000264079.10:c.1447C= | ENSP00000264079.5:p.Gln483= |
| ENST00000394321.9:n.1762C= | |
| ENST00000594692.1:n.443C= | |
| ENST00000595860.5:n.630C= | |
| ENST00000599334.1:c.237-62C= |