Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.76732963G>A , CM000667.2:g.76732963G>A | GRCh38 |
| NC_000005.9:g.76028788G>A , CM000667.1:g.76028788G>A | GRCh37 |
| NC_000005.8:g.76064544G>A | NCBI36 |
| NG_032906.1:g.21921G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319211.5:c.738G>A MANE Select | ENSP00000321326.4:p.Val246= | |
| ENST00000319211.4:c.738G>A | ENSP00000321326.4:p.Val246= | |
| NM_001311313.1:c.375G>A | NP_001298242.1:p.Val125= | |
| NM_001992.3:c.738G>A | NP_001983.2:p.Val246= | |
| NM_001992.4:c.738G>A | NP_001983.2:p.Val246= | |
| NM_001992.5:c.738G>A MANE Select | NP_001983.2:p.Val246= | |
| NM_001311313.2:c.375G>A | NP_001298242.1:p.Val125= |