Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94422827C= , CM000669.2:g.94422827C= | GRCh38 |
| NC_000007.13:g.94052139C= , CM000669.1:g.94052139C= | GRCh37 |
| NC_000007.12:g.93890075C= | NCBI36 |
| NG_007405.1:g.33267C= , LRG_2:g.33267C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2404-130C= MANE Select | ENSP00000297268.6:n.2404-130C= | |
| ENST00000297268.10:c.2404-130C= | ENSP00000297268.6:n.2404-130C= | |
| ENST00000481570.5:n.357C= | ||
| ENST00000497316.5:n.801-130C= | ||
| ENST00000620463.1:c.2398-130C= | ENSP00000477719.1:n.2398-130C= | |
| NM_000089.3:c.2404-130C= , LRG_2t1:c.2404-130C= | NP_000080.2:n.2404-130C= | |
| NM_000089.4:c.2404-130C= MANE Select | NP_000080.2:n.2404-130C= |