Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529689G= , CM000681.2:g.7529689G= | GRCh38 |
| NC_000019.9:g.7594575G= , CM000681.1:g.7594575G= | GRCh37 |
| NC_000019.8:g.7500575G= | NCBI36 |
| NG_013374.1:g.538G= | |
| NG_015806.1:g.12080G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020533.3:c.1336G= MANE Select | NP_065394.1:p.Val446= |
| ENST00000264079.11:c.1336G= MANE Select | ENSP00000264079.5:p.Val446= |
| NM_020533.2:c.1336G= | NP_065394.1:p.Val446= |
| ENST00000264079.10:c.1336G= | ENSP00000264079.5:p.Val446= |
| ENST00000394321.9:n.1651G= | |
| ENST00000594692.1:n.332G= | |
| ENST00000595860.5:n.519G= | |
| ENST00000599334.1:c.213G= |