Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48468444A= , CM000677.2:g.48468444A= | GRCh38 |
| NC_000015.9:g.48760641A= , CM000677.1:g.48760641A= | GRCh37 |
| NC_000015.8:g.46547933A= | NCBI36 |
| NG_008805.2:g.182345T= , LRG_778:g.182345T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.4550T= | ENSP00000453958.2:p.Phe1517= | |
| ENST00000674301.2:c.4550T= | ENSP00000501333.2:p.Phe1517= | |
| ENST00000684448.1:n.3224T= | ||
| ENST00000316623.10:c.4550T= MANE Select | ENSP00000325527.5:p.Phe1517= | |
| ENST00000316623.9:c.4550T= | ENSP00000325527.5:p.Phe1517= | |
| ENST00000537463.6:c.*313T= | ENSP00000440294.2:n.*313T= | |
| NM_000138.4:c.4550T= , LRG_778t1:c.4550T= | NP_000129.3:p.Phe1517= | |
| NM_000138.5:c.4550T= MANE Select | NP_000129.3:p.Phe1517= |