Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431511G>A , CM000663.2:g.229431511G>A | GRCh38 |
| NC_000001.10:g.229567258G>A , CM000663.1:g.229567258G>A | GRCh37 |
| NC_000001.9:g.227633881G>A | NCBI36 |
| NG_006672.1:g.7586C>T , LRG_429:g.7586C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.1044C>T | ENSP00000355644.4:p.Arg348= | |
| ENST00000684723.1:c.987C>T | ENSP00000508084.1:p.Arg329= | |
| ENST00000366683.3:c.753C>T | ENSP00000355644.3:p.Arg251= | |
| ENST00000366684.7:c.1122C>T MANE Select | ENSP00000355645.3:p.Arg374= | |
| NM_001100.3:c.1122C>T , LRG_429t1:c.1122C>T | NP_001091.1:p.Arg374= | |
| NM_001100.4:c.1122C>T MANE Select | NP_001091.1:p.Arg374= |