Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35849614G= , CM000681.2:g.35849614G= | GRCh38 |
| NC_000019.9:g.36340516G= , CM000681.1:g.36340516G= | GRCh37 |
| NC_000019.8:g.41032356G= | NCBI36 |
| NG_013356.2:g.24674C= , LRG_693:g.24674C= | |
| NG_051206.1:g.2980G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.648C= MANE Select | ENSP00000368190.4:p.Val216= | |
| ENST00000353632.6:c.648C= | ENSP00000343634.5:p.Val216= | |
| ENST00000378910.9:c.648C= | ENSP00000368190.4:p.Val216= | |
| NM_004646.3:c.648C= , LRG_693t1:c.648C= | NP_004637.1:p.Val216= | |
| NM_004646.4:c.648C= MANE Select | NP_004637.1:p.Val216= |