Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49447749A>T , CM000668.2:g.49447749A>T | GRCh38 |
| NC_000006.11:g.49415462A>T , CM000668.1:g.49415462A>T | GRCh37 |
| NC_000006.10:g.49523421A>T | NCBI36 |
| NG_007100.1:g.20391T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000255.4:c.1481T>A MANE Select | NP_000246.2:p.Leu494Ter |
| ENST00000274813.4:c.1481T>A MANE Select | ENSP00000274813.3:p.Leu494Ter |
| NM_000255.3:c.1481T>A | NP_000246.2:p.Leu494Ter |
| ENST00000274813.3:c.1481T>A | ENSP00000274813.3:p.Leu494Ter |
| XM_005249143.2:c.1481T>A | XP_005249200.1:p.Leu494Ter |
| XM_005249143.3:c.1481T>A | XP_005249200.1:p.Leu494Ter |