Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2787395C>T , CM000686.2:g.2787395C>T | GRCh38 |
| NC_000024.9:g.2655436C>T , CM000686.1:g.2655436C>T | GRCh37 |
| NC_000024.8:g.2715436C>T | NCBI36 |
| NG_011751.1:g.5357G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003140.3:c.209G>A MANE Select | NP_003131.1:p.Trp70Ter |
| ENST00000383070.2:c.209G>A MANE Select | ENSP00000372547.1:p.Trp70Ter |
| NM_003140.2:c.209G>A | NP_003131.1:p.Trp70Ter |
| ENST00000383070.1:c.209G>A | ENSP00000372547.1:p.Trp70Ter |
| ENST00000679518.1:n.106+12656C>T | |
| ENST00000679825.1:n.507C>T | |
| ENST00000680285.1:n.320-2354C>T | |
| ENST00000680845.1:n.166-85C>T | |
| ENST00000681787.1:n.106+12656C>T | |
| ENST00000681940.1:n.106+12656C>T |