Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.113581984G>A , CM000672.2:g.113581984G>A | GRCh38 |
| NC_000010.10:g.115341743G>A , CM000672.1:g.115341743G>A | GRCh37 |
| NC_000010.9:g.115331733G>A | NCBI36 |
| NG_008956.1:g.33966G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004132.5:c.947G>A MANE Select | NP_004123.1:p.Gly316Glu |
| ENST00000351270.4:c.947G>A MANE Select | ENSP00000277903.4:p.Gly316Glu |
| NM_001177660.1:c.869G>A | NP_001171131.1:p.Gly290Glu |
| NM_001177660.2:c.869G>A | NP_001171131.1:p.Gly290Glu |
| NM_001177660.3:c.869G>A | NP_001171131.1:p.Gly290Glu |
| NM_004132.3:c.947G>A | NP_004123.1:p.Gly316Glu |
| NM_004132.4:c.947G>A | NP_004123.1:p.Gly316Glu |
| ENST00000351270.3:c.947G>A | ENSP00000277903.4:p.Gly316Glu |
| ENST00000542051.5:c.869G>A | ENSP00000443283.1:p.Gly290Glu |