Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431559C= , CM000663.2:g.229431559C= | GRCh38 |
| NC_000001.10:g.229567306C= , CM000663.1:g.229567306C= | GRCh37 |
| NC_000001.9:g.227633929C= | NCBI36 |
| NG_006672.1:g.7538G= , LRG_429:g.7538G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001100.4:c.1074G= MANE Select | NP_001091.1:p.Trp358= |
| ENST00000366684.7:c.1074G= MANE Select | ENSP00000355645.3:p.Trp358= |
| NM_001100.3:c.1074G= , LRG_429t1:c.1074G= | NP_001091.1:p.Trp358= |
| ENST00000366683.3:c.705G= | ENSP00000355644.3:p.Trp235= |
| ENST00000366683.4:c.996G= | ENSP00000355644.4:p.Trp332= |
| ENST00000684723.1:c.939G= | ENSP00000508084.1:p.Trp313= |