Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.20197530C>T , CM000670.2:g.20197530C>T | GRCh38 |
| NC_000008.10:g.20055041C>T , CM000670.1:g.20055041C>T | GRCh37 |
| NC_000008.9:g.20099321C>T | NCBI36 |
| NG_047013.1:g.5338C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001693.4:c.124C>T MANE Select | NP_001684.2:p.Gln42Ter |
| ENST00000276390.7:c.124C>T MANE Select | ENSP00000276390.2:p.Gln42Ter |
| NM_001693.3:c.124C>T | NP_001684.2:p.Gln42Ter |
| ENST00000276390.6:c.124C>T | ENSP00000276390.2:p.Gln42Ter |
| ENST00000519667.1:c.92C>T | |
| ENST00000520830.1:c.107C>T | |
| ENST00000523478.5:c.124C>T | ENSP00000430154.1:p.Gln42Ter |
| ENST00000523482.5:n.128C>T | |
| XR_002956632.1:n.156C>T | |
| XR_002956633.1:n.156C>T |