Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86575911A= , CM000670.2:g.86575911A= | GRCh38 |
| NC_000008.10:g.87588139A= , CM000670.1:g.87588139A= | GRCh37 |
| NC_000008.9:g.87657255A= | NCBI36 |
| NG_016980.1:g.172765T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.2323T= MANE Select | ENSP00000316605.5:p.Leu775= | |
| ENST00000681546.1:n.2143T= | ||
| ENST00000681746.1:c.*734T= | ENSP00000505959.1:n.*734T= | |
| ENST00000320005.5:c.2323T= | ENSP00000316605.5:p.Leu775= | |
| ENST00000517327.5:c.276+2778T= | ENSP00000428329.1:n.276+2778T= | |
| NM_019098.4:c.2323T= | NP_061971.3:p.Leu775= | |
| XM_011517138.1:c.1909T= | XP_011515440.1:p.Leu637= | |
| XM_011517138.2:c.1909T= | XP_011515440.1:p.Leu637= | |
| NM_019098.5:c.2323T= MANE Select | NP_061971.3:p.Leu775= |