Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63968310A= , CM000679.2:g.63968310A= | GRCh38 |
| NC_000017.10:g.62045670A= , CM000679.1:g.62045670A= | GRCh37 |
| NC_000017.9:g.59399402A= | NCBI36 |
| NG_011699.1:g.9609T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000334.4:c.749T= MANE Select | NP_000325.4:p.Leu250= |
| ENST00000435607.3:c.749T= MANE Select | ENSP00000396320.1:p.Leu250= |
| ENST00000578147.5:c.749T= | ENSP00000463963.1:p.Leu250= |
| XM_005257566.3:c.749T= | XP_005257623.1:p.Leu250= |