Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127854341C= , CM000671.2:g.127854341C= | GRCh38 |
| NC_000009.11:g.130616620C= , CM000671.1:g.130616620C= | GRCh37 |
| NC_000009.10:g.129656441C= | NCBI36 |
| NG_009551.1:g.5428G= , LRG_589:g.5428G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373203.9:c.15G= MANE Select | ENSP00000362299.4:p.Thr5= | |
| ENST00000344849.4:c.15G= | ENSP00000341917.3:p.Thr5= | |
| ENST00000373203.8:c.15G= | ENSP00000362299.4:p.Thr5= | |
| NM_000118.3:c.15G= , LRG_589t1:c.15G= | NP_000109.1:p.Thr5= | |
| NM_001114753.2:c.15G= , LRG_589t2:c.15G= | NP_001108225.1:p.Thr5= | |
| NM_001114753.3:c.15G= MANE Select | NP_001108225.1:p.Thr5= |