Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40170576G>A , CM000677.2:g.40170576G>A | GRCh38 |
| NC_000015.9:g.40462777G>A , CM000677.1:g.40462777G>A | GRCh37 |
| NC_000015.8:g.38250069G>A | NCBI36 |
| NG_016338.1:g.14568G>A , LRG_489:g.14568G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287598.11:c.279G>A MANE Select | ENSP00000287598.7:p.Gly93= | |
| ENST00000287598.10:c.279G>A | ENSP00000287598.6:p.Gly93= | |
| ENST00000412359.7:c.321G>A | ENSP00000398470.3:p.Gly107= | |
| ENST00000558715.5:c.*112G>A | ENSP00000453861.1:n.*112G>A | |
| ENST00000559414.5:n.452+5G>A | ||
| ENST00000560120.5:n.333G>A | ||
| NM_001211.5:c.279G>A , LRG_489t1:c.279G>A | NP_001202.4:p.Gly93= | |
| NM_001211.6:c.279G>A MANE Select | NP_001202.5:p.Gly93= |