Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189034074A= , CM000664.2:g.189034074A= | GRCh38 |
| NC_000002.11:g.189898800A= , CM000664.1:g.189898800A= | GRCh37 |
| NC_000002.10:g.189607045A= | NCBI36 |
| NG_011799.1:g.150806T= | |
| NG_011799.2:g.150806T= | |
| NG_011799.3:g.196228T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000393.5:c.4496T= MANE Select | NP_000384.2:p.Val1499= |
| ENST00000374866.9:c.4496T= MANE Select | ENSP00000364000.3:p.Val1499= |
| NM_000393.3:c.4496T= | NP_000384.2:p.Val1499= |
| NM_000393.4:c.4496T= | NP_000384.2:p.Val1499= |
| ENST00000374866.7:c.4496T= | ENSP00000364000.3:p.Val1499= |
| ENST00000618828.1:c.3335T= | ENSP00000482184.1:p.Val1112= |
| XM_011510573.1:c.4358T= | XP_011508875.1:p.Val1453= |
| XM_011510573.3:c.4358T= | XP_011508875.1:p.Val1453= |