Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229433111C= , CM000663.2:g.229433111C= | GRCh38 |
| NC_000001.10:g.229568858C= , CM000663.1:g.229568858C= | GRCh37 |
| NC_000001.9:g.227635481C= | NCBI36 |
| NG_006672.1:g.5986G= , LRG_429:g.5986G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366683.4:c.5G= | ENSP00000355644.4:p.Cys2= | |
| ENST00000684723.1:c.-6-231G= | ENSP00000508084.1:n.-6-231G= | |
| ENST00000366683.3:c.5G= | ENSP00000355644.3:p.Cys2= | |
| ENST00000366684.7:c.5G= MANE Select | ENSP00000355645.3:p.Cys2= | |
| NM_001100.3:c.5G= , LRG_429t1:c.5G= | NP_001091.1:p.Cys2= | |
| NM_001100.4:c.5G= MANE Select | NP_001091.1:p.Cys2= |