Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2787307T= , CM000686.2:g.2787307T= | GRCh38 |
| NC_000024.9:g.2655348T= , CM000686.1:g.2655348T= | GRCh37 |
| NC_000024.8:g.2715348T= | NCBI36 |
| NG_011751.1:g.5445A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000679518.1:n.106+12568T= | ||
| ENST00000679825.1:n.419T= | ||
| ENST00000680285.1:n.320-2442T= | ||
| ENST00000680845.1:n.166-173T= | ||
| ENST00000681787.1:n.106+12568T= | ||
| ENST00000681940.1:n.106+12568T= | ||
| ENST00000383070.2:c.297A= MANE Select | ENSP00000372547.1:p.Lys99= | |
| ENST00000383070.1:c.297A= | ENSP00000372547.1:p.Lys99= | |
| NM_003140.2:c.297A= | NP_003131.1:p.Lys99= | |
| NM_003140.3:c.297A= MANE Select | NP_003131.1:p.Lys99= |