Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.247451105G= , CM000663.2:g.247451105G= | GRCh38 |
| NC_000001.10:g.247614407G= , CM000663.1:g.247614407G= | GRCh37 |
| NC_000001.9:g.245681030G= | NCBI36 |
| NG_007509.2:g.39933G= , LRG_197:g.39933G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001004492.2:c.878C= MANE Select | NP_001004492.1:p.Thr293= |
| ENST00000641149.2:c.878C= MANE Select | ENSP00000492892.1:p.Thr293= |
| NM_001004492.1:c.878C= | NP_001004492.1:p.Thr293= |
| NR_169840.1:n.1532C= | |
| ENST00000318749.7:c.878C= | ENSP00000325682.6:p.Thr293= |
| ENST00000318749.8:c.878C= | ENSP00000325682.6:p.Thr293= |
| ENST00000641149.1:c.878C= | ENSP00000492892.1:p.Thr293= |
| ENST00000641527.1:c.878C= | ENSP00000493421.1:p.Thr293= |
| ENST00000641613.1:n.1532C= |