Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135851073G= , CM000664.2:g.135851073G= | GRCh38 |
| NC_000002.11:g.136608643G= , CM000664.1:g.136608643G= | GRCh37 |
| NC_000002.10:g.136325113G= | NCBI36 |
| NG_008104.2:g.9097C= , LRG_338:g.9097C= | |
| NG_008958.1:g.30369C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005915.6:c.1917+329C= MANE Select | NP_005906.2:n.1917+329C= |
| ENST00000264156.3:c.1917+329C= MANE Select | ENSP00000264156.2:n.1917+329C= |
| NM_005915.5:c.1917+329C= | NP_005906.2:n.1917+329C= |
| ENST00000264156.2:c.1917+329C= | ENSP00000264156.2:n.1917+329C= |
| ENST00000483902.1:n.544+329C= | |
| ENST00000492091.1:n.343+329C= |