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