Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32220826C= , CM000668.2:g.32220826C= | GRCh38 |
| NC_000006.11:g.32188603C= , CM000668.1:g.32188603C= | GRCh37 |
| NC_000006.10:g.32296581C= | NCBI36 |
| NG_028190.1:g.8242G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375023.3:c.852G= MANE Select | ENSP00000364163.3:p.Gln284= | |
| ENST00000473562.1:n.981G= | ||
| NM_004557.3:c.852G= | NP_004548.3:p.Gln284= | |
| NR_134949.1:n.991G= | ||
| NR_134950.1:n.991G= | ||
| NM_004557.4:c.852G= MANE Select | NP_004548.3:p.Gln284= | |
| NR_134949.2:n.991G= | ||
| NR_134950.2:n.991G= |