Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39735006G= , CM000681.2:g.39735006G= | GRCh38 |
| NC_000019.9:g.40225646G= , CM000681.1:g.40225646G= | GRCh37 |
| NC_000019.8:g.44917486G= | NCBI36 |
| NG_046978.1:g.8024C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001828.6:c.83C= MANE Select | NP_001819.2:p.Ala28= |
| ENST00000221804.5:c.83C= MANE Select | ENSP00000221804.3:p.Ala28= |
| NM_001828.5:c.83C= | NP_001819.2:p.Ala28= |
| ENST00000221804.4:c.83C= | ENSP00000221804.3:p.Ala28= |