Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20756126G= , CM000686.2:g.20756126G= | GRCh38 |
| NC_000024.9:g.22918012G= , CM000686.1:g.22918012G= | GRCh37 |
| NC_000024.8:g.21327400G= | NCBI36 |
| NG_032924.1:g.5059G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000629237.2:c.-38G= MANE Select | ENSP00000486252.1:n.-38G= | |
| NM_001039567.2:c.-38G= | NP_001034656.1:n.-38G= | |
| NM_001039567.3:c.-38G= MANE Select | NP_001034656.1:n.-38G= |