Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148827671C= , CM000667.2:g.148827671C= | GRCh38 |
| NC_000005.9:g.148207234C= , CM000667.1:g.148207234C= | GRCh37 |
| NC_000005.8:g.148187427C= | NCBI36 |
| NG_016421.1:g.6079C= | |
| NG_016421.2:g.6079C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.840C= MANE Select | ENSP00000305372.4:p.Gly280= | |
| ENST00000305988.5:c.840C= | ENSP00000305372.4:p.Gly280= | |
| NM_000024.5:c.840C= | NP_000015.1:p.Gly280= | |
| NM_000024.6:c.840C= MANE Select | NP_000015.2:p.Gly280= |