Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20584381G= , CM000686.2:g.20584381G= | GRCh38 |
| NC_000024.9:g.22746267G= , CM000686.1:g.22746267G= | GRCh37 |
| NC_000024.8:g.21155655G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004681.4:c.205-93G= MANE Select | NP_004672.2:n.205-93G= |
| ENST00000361365.7:c.205-93G= MANE Select | ENSP00000354722.2:n.205-93G= |
| NM_001278612.1:c.204+1688G= | NP_001265541.1:n.204+1688G= |
| NM_001278612.2:c.204+1688G= | NP_001265541.1:n.204+1688G= |
| NM_004681.3:c.205-93G= | NP_004672.2:n.205-93G= |
| ENST00000361365.6:c.205-93G= | ENSP00000354722.2:n.205-93G= |
| ENST00000382772.3:c.204+1688G= | ENSP00000372222.3:n.204+1688G= |
| ENST00000465253.1:n.299-93G= |