Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.159233507G>A , CM000668.2:g.159233507G>A | GRCh38 |
| NC_000006.11:g.159654539G>A , CM000668.1:g.159654539G>A | GRCh37 |
| NC_000006.10:g.159574529G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297267.14:c.2995G>A MANE Select | ENSP00000297267.9:p.Gly999Ser | |
| ENST00000297267.13:c.2995G>A | ENSP00000297267.9:p.Gly999Ser | |
| ENST00000329629.8:c.2681G>A | ||
| NM_032532.2:c.2995G>A | NP_115921.2:p.Gly999Ser | |
| XM_011536190.1:c.2926G>A | XP_011534492.1:p.Gly976Ser | |
| XM_011536191.1:c.2644G>A | XP_011534493.1:p.Gly882Ser | |
| XM_011536190.2:c.2926G>A | XP_011534492.1:p.Gly976Ser | |
| XM_011536191.2:c.2644G>A | XP_011534493.1:p.Gly882Ser | |
| NM_032532.3:c.2995G>A MANE Select | NP_115921.2:p.Gly999Ser |