Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148827257G>A , CM000667.2:g.148827257G>A | GRCh38 |
| NC_000005.9:g.148206820G>A , CM000667.1:g.148206820G>A | GRCh37 |
| NC_000005.8:g.148187013G>A | NCBI36 |
| NG_016421.1:g.5665G>A | |
| NG_016421.2:g.5665G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.426G>A MANE Select | ENSP00000305372.4:p.Gln142= | |
| ENST00000305988.5:c.426G>A | ENSP00000305372.4:p.Gln142= | |
| NM_000024.5:c.426G>A | NP_000015.1:p.Gln142= | |
| NM_000024.6:c.426G>A MANE Select | NP_000015.2:p.Gln142= |