Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121857339T= , CM000674.2:g.121857339T= | GRCh38 |
| NC_000012.11:g.122295245T= , CM000674.1:g.122295245T= | GRCh37 |
| NC_000012.10:g.120779628T= | NCBI36 |
| NG_016461.1:g.36273A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289004.8:c.187A= (HPD) MANE Select | ENSP00000289004.4:p.Lys63= | |
| ENST00000535114.1:n.543A= (HPD) | ||
| ENST00000542159.2:n.245A= (HPD) | ||
| ENST00000543163.5:c.70A= (HPD) | ENSP00000441677.1:p.Lys24= | |
| NM_001171993.1:c.70A= (HPD) | NP_001165464.1:p.Lys24= | |
| NM_002150.2:c.187A= (HPD) | NP_002141.1:p.Lys63= | |
| XR_002957437.1:n.324-280T= (TIALD) | ||
| NM_002150.3:c.187A= (HPD) MANE Select | NP_002141.2:p.Lys63= | |
| NM_001171993.2:c.70A= (HPD) | NP_001165464.1:p.Lys24= |