Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2787404A>T , CM000686.2:g.2787404A>T | GRCh38 |
| NC_000024.9:g.2655445A>T , CM000686.1:g.2655445A>T | GRCh37 |
| NC_000024.8:g.2715445A>T | NCBI36 |
| NG_011751.1:g.5348T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000679518.1:n.106+12665A>T | ||
| ENST00000679825.1:n.516A>T | ||
| ENST00000680285.1:n.320-2345A>T | ||
| ENST00000680845.1:n.166-76A>T | ||
| ENST00000681787.1:n.106+12665A>T | ||
| ENST00000681940.1:n.106+12665A>T | ||
| ENST00000383070.2:c.200T>A MANE Select | ENSP00000372547.1:p.Phe67Tyr | |
| ENST00000383070.1:c.200T>A | ENSP00000372547.1:p.Phe67Tyr | |
| NM_003140.2:c.200T>A | NP_003131.1:p.Phe67Tyr | |
| NM_003140.3:c.200T>A MANE Select | NP_003131.1:p.Phe67Tyr |