Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48480463T>G , CM000675.2:g.48480463T>G | GRCh38 |
| NC_000013.10:g.49054599T>G , CM000675.1:g.49054599T>G | GRCh37 |
| NC_000013.9:g.47952600T>G | NCBI36 |
| NG_009009.1:g.181717T>G , LRG_517:g.181717T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.*392T>G MANE Select | NP_000312.2:n.*392T>G |
| ENST00000267163.6:c.*392T>G MANE Select | ENSP00000267163.4:n.*392T>G |
| NM_000321.2:c.*392T>G , LRG_517t1:c.*392T>G | NP_000312.2:n.*392T>G |
| ENST00000267163.4:c.*392T>G | ENSP00000267163.4:n.*392T>G |
| ENST00000484879.1:n.913T>G | |
| ENST00000643064.1:c.194+99020T>G | |
| ENST00000650461.1:c.*426T>G | ENSP00000497193.1:n.*426T>G |
| XM_011535171.1:c.*392T>G | XP_011533473.1:n.*392T>G |
| XM_011535171.2:c.*392T>G | XP_011533473.1:n.*392T>G |