Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2787404A= , CM000686.2:g.2787404A= | GRCh38 |
| NC_000024.9:g.2655445A= , CM000686.1:g.2655445A= | GRCh37 |
| NC_000024.8:g.2715445A= | NCBI36 |
| NG_011751.1:g.5348T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000679518.1:n.106+12665A= | ||
| ENST00000679825.1:n.516A= | ||
| ENST00000680285.1:n.320-2345A= | ||
| ENST00000680845.1:n.166-76A= | ||
| ENST00000681787.1:n.106+12665A= | ||
| ENST00000681940.1:n.106+12665A= | ||
| ENST00000383070.2:c.200T= MANE Select | ENSP00000372547.1:p.Phe67= | |
| ENST00000383070.1:c.200T= | ENSP00000372547.1:p.Phe67= | |
| NM_003140.2:c.200T= | NP_003131.1:p.Phe67= | |
| NM_003140.3:c.200T= MANE Select | NP_003131.1:p.Phe67= |