Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411061A= , CM000677.2:g.48411061A= | GRCh38 |
| NC_000015.9:g.48703258A= , CM000677.1:g.48703258A= | GRCh37 |
| NC_000015.8:g.46490550A= | NCBI36 |
| NG_008805.2:g.239728T= , LRG_778:g.239728T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1353T= | ENSP00000453958.2:n.*1353T= | |
| ENST00000682158.1:n.1926T= | ||
| ENST00000682170.1:n.2726T= | ||
| ENST00000682767.1:n.1842T= | ||
| ENST00000316623.10:c.8545T= MANE Select | ENSP00000325527.5:p.Tyr2849= | |
| ENST00000316623.9:c.8545T= | ENSP00000325527.5:p.Tyr2849= | |
| ENST00000559133.5:c.3914T= | ||
| NM_000138.4:c.8545T= , LRG_778t1:c.8545T= | NP_000129.3:p.Tyr2849= | |
| NM_000138.5:c.8545T= MANE Select | NP_000129.3:p.Tyr2849= |