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