Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23431671G= , CM000676.2:g.23431671G= | GRCh38 |
| NC_000014.8:g.23900880G= , CM000676.1:g.23900880G= | GRCh37 |
| NC_000014.7:g.22970720G= | NCBI36 |
| NG_007884.1:g.8991C= , LRG_384:g.8991C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.646C= MANE Select | ENSP00000347507.3:p.Leu216= | |
| ENST00000355349.3:c.646C= | ENSP00000347507.3:p.Leu216= | |
| NM_000257.3:c.646C= | NP_000248.2:p.Leu216= | |
| XR_245686.3:n.752C= | ||
| XM_017021340.1:c.646C= | XP_016876829.1:p.Leu216= | |
| NM_000257.4:c.646C= MANE Select | NP_000248.2:p.Leu216= |