Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.58395360G>T , CM000672.2:g.58395360G>T | GRCh38 |
| NC_000010.10:g.60155120G>T , CM000672.1:g.60155120G>T | GRCh37 |
| NC_000010.9:g.59825126G>T | NCBI36 |
| NG_053006.1:g.15218G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003201.3:c.*286G>T MANE Select | NP_003192.1:n.*286G>T |
| ENST00000487519.6:c.*286G>T MANE Select | ENSP00000420588.1:n.*286G>T |
| NM_001270782.1:c.*286G>T | NP_001257711.1:n.*286G>T |
| NM_001270782.2:c.*286G>T | NP_001257711.1:n.*286G>T |
| NM_003201.2:c.*286G>T | NP_003192.1:n.*286G>T |
| NR_073073.1:n.1499G>T | |
| NR_073073.2:n.1232G>T | |
| ENST00000487519.5:c.*286G>T | ENSP00000420588.1:n.*286G>T |