Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.20220382C>T , CM000670.2:g.20220382C>T | GRCh38 |
| NC_000008.10:g.20077893C>T , CM000670.1:g.20077893C>T | GRCh37 |
| NC_000008.9:g.20122173C>T | NCBI36 |
| NG_047013.1:g.28190C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001693.4:c.1516C>T MANE Select | NP_001684.2:p.Arg506Ter |
| ENST00000276390.7:c.1516C>T MANE Select | ENSP00000276390.2:p.Arg506Ter |
| NM_001693.3:c.1516C>T | NP_001684.2:p.Arg506Ter |
| ENST00000276390.6:c.1516C>T | ENSP00000276390.2:p.Arg506Ter |
| ENST00000521442.1:c.101+2100C>T | |
| ENST00000523482.5:n.5600C>T | |
| XR_002956632.1:n.2992C>T | |
| XR_002956633.1:n.3460C>T |