Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68829652C= , CM000685.2:g.68829652C= | GRCh38 |
| NC_000023.10:g.68049495C= , CM000685.1:g.68049495C= | GRCh37 |
| NC_000023.9:g.67966220C= | NCBI36 |
| NG_008887.1:g.5656C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000204961.5:c.-125C= MANE Select | ENSP00000204961.4:n.-125C= | |
| ENST00000204961.4:c.-125C= | ENSP00000204961.4:n.-125C= | |
| NM_004429.4:c.-125C= | NP_004420.1:n.-125C= | |
| NM_004429.5:c.-125C= MANE Select | NP_004420.1:n.-125C= |