Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8086023C>T , CM000679.2:g.8086023C>T | GRCh38 |
| NC_000017.10:g.7989341C>T , CM000679.1:g.7989341C>T | GRCh37 |
| NC_000017.9:g.7930066C>T | NCBI36 |
| NG_007099.1:g.6681G>A | |
| NG_007099.2:g.6694G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.345G>A MANE Select | ENSP00000497784.1:p.Glu115= | |
| ENST00000319144.4:c.345G>A | ENSP00000315167.4:p.Glu115= | |
| NM_001139.2:c.345G>A | NP_001130.1:p.Glu115= | |
| NM_001139.3:c.345G>A MANE Select | NP_001130.1:p.Glu115= |