Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431727C= , CM000663.2:g.229431727C= | GRCh38 |
| NC_000001.10:g.229567474C= , CM000663.1:g.229567474C= | GRCh37 |
| NC_000001.9:g.227634097C= | NCBI36 |
| NG_006672.1:g.7370G= , LRG_429:g.7370G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001100.4:c.984G= MANE Select | NP_001091.1:p.Lys328= |
| ENST00000366684.7:c.984G= MANE Select | ENSP00000355645.3:p.Lys328= |
| NM_001100.3:c.984G= , LRG_429t1:c.984G= | NP_001091.1:p.Lys328= |
| ENST00000366683.3:c.615G= | ENSP00000355644.3:p.Lys205= |
| ENST00000366683.4:c.984G= | ENSP00000355644.4:p.Lys328= |
| ENST00000684723.1:c.849G= | ENSP00000508084.1:p.Lys283= |