Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431533G= , CM000663.2:g.229431533G= | GRCh38 |
| NC_000001.10:g.229567280G= , CM000663.1:g.229567280G= | GRCh37 |
| NC_000001.9:g.227633903G= | NCBI36 |
| NG_006672.1:g.7564C= , LRG_429:g.7564C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366683.4:c.1022C= | ENSP00000355644.4:p.Ala341= | |
| ENST00000684723.1:c.965C= | ENSP00000508084.1:p.Ala322= | |
| ENST00000366683.3:c.731C= | ENSP00000355644.3:p.Ala244= | |
| ENST00000366684.7:c.1100C= MANE Select | ENSP00000355645.3:p.Ala367= | |
| NM_001100.3:c.1100C= , LRG_429t1:c.1100C= | NP_001091.1:p.Ala367= | |
| NM_001100.4:c.1100C= MANE Select | NP_001091.1:p.Ala367= |