Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74922931A= , CM000679.2:g.74922931A= | GRCh38 |
| NC_000017.10:g.72919026A= , CM000679.1:g.72919026A= | GRCh37 |
| NC_000017.9:g.70430621A= | NCBI36 |
| NG_007882.1:g.5326T= | |
| NG_033062.1:g.3657A= | |
| NG_007882.2:g.5333T= | |
| NG_033062.2:g.3657A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173477.5:c.143T= MANE Select | NP_775748.2:p.Leu48= |
| ENST00000614341.5:c.143T= MANE Select | ENSP00000480279.1:p.Leu48= |
| NM_001282489.2:c.-114T= | NP_001269418.1:n.-114T= |
| NM_001282489.3:c.-114T= | NP_001269418.1:n.-114T= |
| NM_173477.4:c.143T= | NP_775748.2:p.Leu48= |
| ENST00000579243.1:c.143T= | ENSP00000462568.1:p.Leu48= |
| ENST00000614341.4:c.143T= | ENSP00000480279.1:p.Leu48= |