Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713217G= , CM000681.2:g.6713217G= | GRCh38 |
| NC_000019.9:g.6713228G= , CM000681.1:g.6713228G= | GRCh37 |
| NC_000019.8:g.6664228G= | NCBI36 |
| NG_009557.1:g.12435C= , LRG_27:g.12435C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.852C= | ENSP00000512083.1:p.Tyr284= | |
| ENST00000695654.1:c.99C= | ENSP00000512085.1:p.Tyr33= | |
| ENST00000695692.1:n.299C= | ||
| ENST00000245907.11:c.975C= MANE Select | ENSP00000245907.4:p.Tyr325= | |
| ENST00000245907.10:c.975C= | ENSP00000245907.4:p.Tyr325= | |
| ENST00000594270.5:n.99C= | ||
| ENST00000595577.1:n.479C= | ||
| ENST00000597442.5:n.225C= | ||
| NM_000064.3:c.975C= | NP_000055.2:p.Tyr325= | |
| NM_000064.4:c.975C= MANE Select | NP_000055.2:p.Tyr325= |