Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586841G= , CM000679.2:g.41586841G= | GRCh38 |
| NC_000017.10:g.39743093G= , CM000679.1:g.39743093G= | GRCh37 |
| NC_000017.9:g.36996619G= | NCBI36 |
| NG_008624.1:g.5055C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.-7C= MANE Select | ENSP00000167586.6:n.-7C= | |
| ENST00000167586.6:c.-7C= | ENSP00000167586.6:n.-7C= | |
| NM_000526.4:c.-7C= | NP_000517.2:n.-7C= | |
| NM_000526.5:c.-7C= MANE Select | NP_000517.3:n.-7C= |