Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9214244G= , CM000681.2:g.9214244G= | GRCh38 |
| NC_000019.9:g.9324920G= , CM000681.1:g.9324920G= | GRCh37 |
| NC_000019.8:g.9185920G= | NCBI36 |
| NG_027953.1:g.5628C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641244.1:c.594C= | ENSP00000493404.1:p.Val198= | |
| ENST00000641669.1:c.594C= MANE Select | ENSP00000493383.1:p.Val198= | |
| ENST00000308682.3:c.594C= | ENSP00000310488.2:p.Val198= | |
| NM_001005191.2:c.594C= | NP_001005191.1:p.Val198= | |
| NM_001005191.3:c.594C= MANE Select | NP_001005191.1:p.Val198= |