Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2787224T>A , CM000686.2:g.2787224T>A | GRCh38 |
| NC_000024.9:g.2655265T>A , CM000686.1:g.2655265T>A | GRCh37 |
| NC_000024.8:g.2715265T>A | NCBI36 |
| NG_011751.1:g.5528A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003140.3:c.380A>T MANE Select | NP_003131.1:p.Tyr127Phe |
| ENST00000383070.2:c.380A>T MANE Select | ENSP00000372547.1:p.Tyr127Phe |
| NM_003140.2:c.380A>T | NP_003131.1:p.Tyr127Phe |
| ENST00000383070.1:c.380A>T | ENSP00000372547.1:p.Tyr127Phe |
| ENST00000679518.1:n.106+12485T>A | |
| ENST00000679825.1:n.336T>A | |
| ENST00000680285.1:n.320-2525T>A | |
| ENST00000680845.1:n.165+171T>A | |
| ENST00000681787.1:n.106+12485T>A | |
| ENST00000681940.1:n.106+12485T>A |