Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99218211T>C , CM000671.2:g.99218211T>C | GRCh38 |
| NC_000009.11:g.101980493T>C , CM000671.1:g.101980493T>C | GRCh37 |
| NC_000009.10:g.101020314T>C | NCBI36 |
| NG_008928.1:g.8754A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033087.4:c.974A>G MANE Select | NP_149078.1:p.Glu325Gly |
| ENST00000476832.2:c.974A>G MANE Select | ENSP00000417764.1:p.Glu325Gly |
| NM_033087.3:c.974A>G | NP_149078.1:p.Glu325Gly |
| NR_024532.1:n.1203A>G | |
| NR_024532.2:n.1181A>G | |
| ENST00000238477.5:c.*716A>G | ENSP00000432675.2:n.*716A>G |
| ENST00000319033.7:c.695A>G | ENSP00000326609.6:p.Glu232Gly |
| ENST00000476832.1:c.974A>G | ENSP00000417764.1:p.Glu325Gly |