Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34256260A= , CM000679.2:g.34256260A= | GRCh38 |
| NC_000017.10:g.32583279A= , CM000679.1:g.32583279A= | GRCh37 |
| NC_000017.9:g.29607392A= | NCBI36 |
| NG_012123.1:g.5984A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580907.6:c.115A= | ENSP00000462156.1:p.Thr39= | |
| ENST00000624362.2:n.976A= | ||
| ENST00000225831.4:c.115A= MANE Select | ENSP00000225831.4:p.Thr39= | |
| ENST00000580907.5:c.115A= | ENSP00000462156.1:p.Thr39= | |
| ENST00000582017.1:n.53A= | ||
| NM_002982.3:c.115A= | NP_002973.1:p.Thr39= | |
| NM_002982.4:c.115A= MANE Select | NP_002973.1:p.Thr39= |