Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48437347G= , CM000677.2:g.48437347G= | GRCh38 |
| NC_000015.9:g.48729544G= , CM000677.1:g.48729544G= | GRCh37 |
| NC_000015.8:g.46516836G= | NCBI36 |
| NG_008805.2:g.213442C= , LRG_778:g.213442C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000138.5:c.6354C= MANE Select | NP_000129.3:p.Ile2118= |
| ENST00000316623.10:c.6354C= MANE Select | ENSP00000325527.5:p.Ile2118= |
| NM_000138.4:c.6354C= , LRG_778t1:c.6354C= | NP_000129.3:p.Ile2118= |
| ENST00000316623.9:c.6354C= | ENSP00000325527.5:p.Ile2118= |
| ENST00000537463.6:c.*2117C= | ENSP00000440294.2:n.*2117C= |
| ENST00000559133.5:c.1661C= | |
| ENST00000559133.6:c.6354C= | ENSP00000453958.2:p.Ile2118= |
| ENST00000674301.1:c.1353C= | ENSP00000501333.1:p.Ile451= |
| ENST00000674301.2:c.6354C= | ENSP00000501333.2:p.Ile2118= |