Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832816A>G , CM000673.2:g.116832816A>G | GRCh38 |
| NC_000011.9:g.116703532A>G , CM000673.1:g.116703532A>G | GRCh37 |
| NC_000011.8:g.116208742A>G | NCBI36 |
| NG_008949.1:g.7909A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000040.3:c.232A>G MANE Select | NP_000031.1:p.Lys78Glu |
| ENST00000227667.8:c.232A>G MANE Select | ENSP00000227667.2:p.Lys78Glu |
| NM_000040.1:c.232A>G | NP_000031.1:p.Lys78Glu |
| NM_000040.2:c.232A>G | NP_000031.1:p.Lys78Glu |
| ENST00000227667.7:c.232A>G | ENSP00000227667.2:p.Lys78Glu |
| ENST00000375345.3:c.286A>G | ENSP00000364494.1:p.Lys96Glu |
| ENST00000630701.1:c.286A>G | ENSP00000486182.1:p.Lys96Glu |