Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41093013G>T , CM000684.2:g.41093013G>T | GRCh38 |
| NC_000022.10:g.41489017G>T , CM000684.1:g.41489017G>T | GRCh37 |
| NC_000022.9:g.39818963G>T | NCBI36 |
| NG_009817.1:g.5404G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703544.1:c.9G>T | ENSP00000515365.1:p.Glu3Asp | |
| ENST00000263253.9:c.9G>T MANE Select | ENSP00000263253.7:p.Glu3Asp | |
| ENST00000674155.1:c.9G>T | ENSP00000501078.1:p.Glu3Asp | |
| ENST00000263253.8:c.9G>T | ENSP00000263253.7:p.Glu3Asp | |
| NM_001429.3:c.9G>T | NP_001420.2:p.Glu3Asp | |
| XM_006724165.2:c.9G>T | XP_006724228.1:p.Glu3Asp | |
| NM_001362843.1:c.9G>T | NP_001349772.1:p.Glu3Asp | |
| NM_001429.4:c.9G>T MANE Select | NP_001420.2:p.Glu3Asp | |
| NM_001362843.2:c.9G>T | NP_001349772.1:p.Glu3Asp |