Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.17134666G= , CM000678.2:g.17134666G= | GRCh38 |
| NC_000016.9:g.17228523G= , CM000678.1:g.17228523G= | GRCh37 |
| NC_000016.8:g.17136024G= | NCBI36 |
| NG_015843.1:g.341216C= | |
| NG_015843.2:g.341216C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261381.7:c.1834C= MANE Select | ENSP00000261381.6:p.Leu612= | |
| ENST00000261381.6:c.1834C= | ENSP00000261381.6:p.Leu612= | |
| NM_022166.3:c.1834C= | NP_071449.1:p.Leu612= | |
| XM_011522574.1:c.1834C= | XP_011520876.1:p.Leu612= | |
| XR_933140.1:n.82+116G= | ||
| XR_933141.1:n.75+116G= | ||
| XR_933143.1:n.82+116G= | ||
| NR_135179.1:n.47+116G= | ||
| XM_017023539.2:c.1834C= | XP_016879028.1:p.Leu612= | |
| XM_017023540.2:c.1834C= | XP_016879029.1:p.Leu612= | |
| NM_022166.4:c.1834C= MANE Select | NP_071449.1:p.Leu612= |