Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97611648G= , CM000672.2:g.97611648G= | GRCh38 |
| NC_000010.10:g.99371405G= , CM000672.1:g.99371405G= | GRCh37 |
| NC_000010.9:g.99361395G= | NCBI36 |
| NG_027922.1:g.32304G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138413.4:c.973G= MANE Select | NP_612422.2:p.Gly325= |
| ENST00000370646.9:c.973G= MANE Select | ENSP00000359680.4:p.Gly325= |
| NM_001134670.1:c.484G= | NP_001128142.1:p.Gly162= |
| NM_001134670.2:c.484G= | NP_001128142.1:p.Gly162= |
| NM_138413.3:c.973G= | NP_612422.2:p.Gly325= |
| ENST00000370646.8:c.973G= | ENSP00000359680.4:p.Gly325= |
| ENST00000370647.8:c.484G= | ENSP00000359681.4:p.Gly162= |
| ENST00000370649.3:c.345+9658G= | ENSP00000359683.3:n.345+9658G= |