Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2787459C>A , CM000686.2:g.2787459C>A | GRCh38 |
| NC_000024.9:g.2655500C>A , CM000686.1:g.2655500C>A | GRCh37 |
| NC_000024.8:g.2715500C>A | NCBI36 |
| NG_011751.1:g.5293G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003140.3:c.145G>T MANE Select | NP_003131.1:p.Gly49Ter |
| ENST00000383070.2:c.145G>T MANE Select | ENSP00000372547.1:p.Gly49Ter |
| NM_003140.2:c.145G>T | NP_003131.1:p.Gly49Ter |
| ENST00000383070.1:c.145G>T | ENSP00000372547.1:p.Gly49Ter |
| ENST00000679518.1:n.106+12720C>A | |
| ENST00000679825.1:n.571C>A | |
| ENST00000680285.1:n.320-2290C>A | |
| ENST00000680845.1:n.166-21C>A | |
| ENST00000681787.1:n.106+12720C>A | |
| ENST00000681940.1:n.106+12720C>A |