Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48515392C>A , CM000677.2:g.48515392C>A | GRCh38 |
| NC_000015.9:g.48807589C>A , CM000677.1:g.48807589C>A | GRCh37 |
| NC_000015.8:g.46594881C>A | NCBI36 |
| NG_008805.2:g.135397G>T , LRG_778:g.135397G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000138.5:c.1463G>T MANE Select | NP_000129.3:p.Cys488Phe |
| ENST00000316623.10:c.1463G>T MANE Select | ENSP00000325527.5:p.Cys488Phe |
| NM_000138.4:c.1463G>T , LRG_778t1:c.1463G>T | NP_000129.3:p.Cys488Phe |
| ENST00000316623.9:c.1463G>T | ENSP00000325527.5:p.Cys488Phe |
| ENST00000537463.6:c.636+22319G>T | ENSP00000440294.2:n.636+22319G>T |
| ENST00000559133.6:c.1463G>T | ENSP00000453958.2:p.Cys488Phe |
| ENST00000674301.2:c.1463G>T | ENSP00000501333.2:p.Cys488Phe |
| ENST00000684448.1:n.137G>T |