Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40170098T= , CM000677.2:g.40170098T= | GRCh38 |
| NC_000015.9:g.40462299T= , CM000677.1:g.40462299T= | GRCh37 |
| NC_000015.8:g.38249591T= | NCBI36 |
| NG_016338.1:g.14090T= , LRG_489:g.14090T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001211.6:c.216T= MANE Select | NP_001202.5:p.Asn72= |
| ENST00000287598.11:c.216T= MANE Select | ENSP00000287598.7:p.Asn72= |
| NM_001211.5:c.216T= , LRG_489t1:c.216T= | NP_001202.4:p.Asn72= |
| ENST00000287598.10:c.216T= | ENSP00000287598.6:p.Asn72= |
| ENST00000412359.7:c.216T= | ENSP00000398470.3:p.Asn72= |
| ENST00000558715.5:c.*49T= | ENSP00000453861.1:n.*49T= |
| ENST00000559414.5:n.394T= | |
| ENST00000560120.5:n.270T= |