Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516688A>T , CM000674.2:g.52516688A>T | GRCh38 |
| NC_000012.11:g.52910472A>T , CM000674.1:g.52910472A>T | GRCh37 |
| NC_000012.10:g.51196739A>T | NCBI36 |
| NG_008297.1:g.8772T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.1388T>A MANE Select | NP_000415.2:p.Leu463Gln |
| ENST00000252242.9:c.1388T>A MANE Select | ENSP00000252242.4:p.Leu463Gln |
| NM_000424.3:c.1388T>A | NP_000415.2:p.Leu463Gln |
| ENST00000252242.8:c.1388T>A | ENSP00000252242.4:p.Leu463Gln |
| ENST00000548409.5:c.510T>A | |
| ENST00000549511.5:n.595T>A | |
| ENST00000552629.5:n.1486T>A |