Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40209762G>T , CM000677.2:g.40209762G>T | GRCh38 |
| NC_000015.9:g.40501963G>T , CM000677.1:g.40501963G>T | GRCh37 |
| NC_000015.8:g.38289255G>T | NCBI36 |
| NG_016338.1:g.53754G>T , LRG_489:g.53754G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001211.6:c.2271G>T MANE Select | NP_001202.5:p.Lys757Asn |
| ENST00000287598.11:c.2271G>T MANE Select | ENSP00000287598.7:p.Lys757Asn |
| NM_001211.5:c.2271G>T , LRG_489t1:c.2271G>T | NP_001202.4:p.Lys757Asn |
| ENST00000287598.10:c.2271G>T | ENSP00000287598.6:p.Lys757Asn |
| ENST00000412359.7:c.2313G>T | ENSP00000398470.3:p.Lys771Asn |
| XR_001751506.1:n.218-29561C>A |