Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10748210C>G , CM000667.2:g.10748210C>G | GRCh38 |
| NC_000005.9:g.10748322C>G , CM000667.1:g.10748322C>G | GRCh37 |
| NC_000005.8:g.10801322C>G | NCBI36 |
| NG_011546.1:g.18066G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230895.11:c.117G>C MANE Select | ENSP00000230895.7:p.Glu39Asp | |
| ENST00000230895.10:c.117G>C | ENSP00000230895.6:p.Glu39Asp | |
| ENST00000432074.2:c.117G>C | ENSP00000394163.2:p.Glu39Asp | |
| ENST00000508253.5:n.274G>C | ||
| ENST00000508646.1:n.150G>C | ||
| ENST00000510546.1:n.248G>C | ||
| ENST00000514882.5:n.185G>C | ||
| NM_001291963.1:c.117G>C | NP_001278892.1:p.Glu39Asp | |
| NM_004394.2:c.117G>C | NP_004385.1:p.Glu39Asp | |
| NM_001291963.2:c.117G>C | NP_001278892.1:p.Glu39Asp | |
| NM_004394.3:c.117G>C MANE Select | NP_004385.1:p.Glu39Asp |