Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445200C>A , CM000673.2:g.2445200C>A | GRCh38 |
| NC_000011.9:g.2466430C>A , CM000673.1:g.2466430C>A | GRCh37 |
| NC_000011.8:g.2423006C>A | NCBI36 |
| NG_008935.1:g.5210C>A , LRG_287:g.5210C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000218.3:c.102C>A MANE Select | NP_000209.2:p.Cys34Ter |
| ENST00000155840.12:c.102C>A MANE Select | ENSP00000155840.2:p.Cys34Ter |
| NM_000218.2:c.102C>A , LRG_287t1:c.102C>A | NP_000209.2:p.Cys34Ter |
| ENST00000155840.9:c.102C>A | ENSP00000155840.2:p.Cys34Ter |
| ENST00000496887.6:c.24-183C>A | ENSP00000434560.1:n.24-183C>A |
| ENST00000496887.7:c.24-183C>A | ENSP00000434560.2:n.24-183C>A |
| ENST00000646564.2:c.102C>A | ENSP00000495806.2:p.Cys34Ter |