Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2787207G= , CM000686.2:g.2787207G= | GRCh38 |
| NC_000024.9:g.2655248G= , CM000686.1:g.2655248G= | GRCh37 |
| NC_000024.8:g.2715248G= | NCBI36 |
| NG_011751.1:g.5545C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003140.3:c.397C= MANE Select | NP_003131.1:p.Arg133= |
| ENST00000383070.2:c.397C= MANE Select | ENSP00000372547.1:p.Arg133= |
| NM_003140.2:c.397C= | NP_003131.1:p.Arg133= |
| ENST00000383070.1:c.397C= | ENSP00000372547.1:p.Arg133= |
| ENST00000679518.1:n.106+12468G= | |
| ENST00000679825.1:n.319G= | |
| ENST00000680285.1:n.320-2542G= | |
| ENST00000680845.1:n.165+154G= | |
| ENST00000681787.1:n.106+12468G= | |
| ENST00000681940.1:n.106+12468G= |