Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.83879591G>A , CM000675.2:g.83879591G>A | GRCh38 |
| NC_000013.10:g.84453726G>A , CM000675.1:g.84453726G>A | GRCh37 |
| NC_000013.9:g.83351727G>A | NCBI36 |
| NG_016748.1:g.7803C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001281503.2:c.1917C>T MANE Select | NP_001268432.1:p.Leu639= |
| ENST00000674365.1:c.1917C>T MANE Select | ENSP00000501349.1:p.Leu639= |
| NM_001281503.1:c.1917C>T | NP_001268432.1:p.Leu639= |
| NM_052910.2:c.1917C>T | NP_443142.1:p.Leu639= |
| ENST00000377084.3:c.1917C>T | ENSP00000366288.2:p.Leu639= |