Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189035129A>C , CM000664.2:g.189035129A>C | GRCh38 |
| NC_000002.11:g.189899855A>C , CM000664.1:g.189899855A>C | GRCh37 |
| NC_000002.10:g.189608100A>C | NCBI36 |
| NG_011799.1:g.149751T>G | |
| NG_011799.2:g.149751T>G | |
| NG_011799.3:g.195173T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.4140T>G MANE Select | ENSP00000364000.3:p.Pro1380= | |
| ENST00000374866.7:c.4140T>G | ENSP00000364000.3:p.Pro1380= | |
| ENST00000618828.1:c.2979T>G | ENSP00000482184.1:p.Pro993= | |
| NM_000393.3:c.4140T>G | NP_000384.2:p.Pro1380= | |
| XM_011510573.1:c.4002T>G | XP_011508875.1:p.Pro1334= | |
| NM_000393.4:c.4140T>G | NP_000384.2:p.Pro1380= | |
| XM_011510573.3:c.4002T>G | XP_011508875.1:p.Pro1334= | |
| NM_000393.5:c.4140T>G MANE Select | NP_000384.2:p.Pro1380= |