Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431570G>T , CM000663.2:g.229431570G>T | GRCh38 |
| NC_000001.10:g.229567317G>T , CM000663.1:g.229567317G>T | GRCh37 |
| NC_000001.9:g.227633940G>T | NCBI36 |
| NG_006672.1:g.7527C>A , LRG_429:g.7527C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.991-6C>A | ENSP00000355644.4:n.991-6C>A | |
| ENST00000684723.1:c.928C>A | ENSP00000508084.1:p.Gln310Lys | |
| ENST00000366683.3:c.694C>A | ENSP00000355644.3:p.Gln232Lys | |
| ENST00000366684.7:c.1063C>A MANE Select | ENSP00000355645.3:p.Gln355Lys | |
| NM_001100.3:c.1063C>A , LRG_429t1:c.1063C>A | NP_001091.1:p.Gln355Lys | |
| NM_001100.4:c.1063C>A MANE Select | NP_001091.1:p.Gln355Lys |