Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911000G= , CM000679.2:g.42911000G= | GRCh38 |
| NC_000017.10:g.41063017G= , CM000679.1:g.41063017G= | GRCh37 |
| NC_000017.9:g.38316543G= | NCBI36 |
| NG_011808.1:g.15203G= , LRG_147:g.15203G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000151.4:c.648G= MANE Select | NP_000142.2:p.Leu216= |
| ENST00000253801.7:c.648G= MANE Select | ENSP00000253801.1:p.Leu216= |
| NM_000151.3:c.648G= | NP_000142.2:p.Leu216= |
| NM_001270397.1:c.*40G= | NP_001257326.1:n.*40G= |
| NM_001270397.2:c.*40G= | NP_001257326.1:n.*40G= |
| ENST00000253801.6:c.648G= | ENSP00000253801.1:p.Leu216= |
| ENST00000585489.1:c.*40G= | ENSP00000466202.1:n.*40G= |
| ENST00000592383.5:c.*40G= | ENSP00000465958.1:n.*40G= |