Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432995G>A , CM000663.2:g.229432995G>A | GRCh38 |
| NC_000001.10:g.229568742G>A , CM000663.1:g.229568742G>A | GRCh37 |
| NC_000001.9:g.227635365G>A | NCBI36 |
| NG_006672.1:g.6102C>T , LRG_429:g.6102C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001100.4:c.121C>T MANE Select | NP_001091.1:p.Arg41Ter |
| ENST00000366684.7:c.121C>T MANE Select | ENSP00000355645.3:p.Arg41Ter |
| NM_001100.3:c.121C>T , LRG_429t1:c.121C>T | NP_001091.1:p.Arg41Ter |
| ENST00000366683.3:c.121C>T | ENSP00000355644.3:p.Arg41Ter |
| ENST00000366683.4:c.121C>T | ENSP00000355644.4:p.Arg41Ter |
| ENST00000684723.1:c.-6-115C>T | ENSP00000508084.1:n.-6-115C>T |