Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.20220303T>G , CM000670.2:g.20220303T>G | GRCh38 |
| NC_000008.10:g.20077814T>G , CM000670.1:g.20077814T>G | GRCh37 |
| NC_000008.9:g.20122094T>G | NCBI36 |
| NG_047013.1:g.28111T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001693.4:c.1437T>G MANE Select | NP_001684.2:p.Ile479Met |
| ENST00000276390.7:c.1437T>G MANE Select | ENSP00000276390.2:p.Ile479Met |
| NM_001693.3:c.1437T>G | NP_001684.2:p.Ile479Met |
| ENST00000276390.6:c.1437T>G | ENSP00000276390.2:p.Ile479Met |
| ENST00000521442.1:c.101+2021T>G | |
| ENST00000523482.5:n.5521T>G | |
| XR_002956632.1:n.2913T>G | |
| XR_002956633.1:n.3381T>G |