Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32316588T>C , CM000682.2:g.32316588T>C | GRCh38 |
| NC_000020.10:g.30904391T>C , CM000682.1:g.30904391T>C | GRCh37 |
| NC_000020.9:g.30368052T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004798.4:c.1568T>C MANE Select | NP_004789.1:p.Leu523Pro |
| ENST00000375712.4:c.1568T>C MANE Select | ENSP00000364864.3:p.Leu523Pro |
| NM_004798.3:c.1568T>C | NP_004789.1:p.Leu523Pro |
| ENST00000375712.3:c.1568T>C | ENSP00000364864.3:p.Leu523Pro |
| XR_001754435.2:n.1748T>C |