Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160752914T>G , CM000668.2:g.160752914T>G | GRCh38 |
| NC_000006.11:g.161173946T>G , CM000668.1:g.161173946T>G | GRCh37 |
| NC_000006.10:g.161093936T>G | NCBI36 |
| NG_016200.1:g.55722T>G , LRG_571:g.55722T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000301.5:c.2286T>G MANE Select | NP_000292.1:p.Gly762= |
| ENST00000308192.14:c.2286T>G MANE Select | ENSP00000308938.9:p.Gly762= |
| NM_000301.3:c.2286T>G , LRG_571t1:c.2286T>G | NP_000292.1:p.Gly762= |
| NM_000301.4:c.2286T>G | NP_000292.1:p.Gly762= |
| ENST00000297289.9:c.1239T>G | ENSP00000516619.1:p.Gly413= |
| ENST00000308192.13:c.2286T>G | ENSP00000308938.9:p.Gly762= |
| ENST00000418964.2:c.2337T>G | ENSP00000389424.2:p.Gly779= |
| ENST00000461414.2:n.260T>G | |
| ENST00000706906.1:c.*2306T>G | ENSP00000516618.1:n.*2306T>G |