Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135845706T= , CM000664.2:g.135845706T= | GRCh38 |
| NC_000002.11:g.136603276T= , CM000664.1:g.136603276T= | GRCh37 |
| NC_000002.10:g.136319746T= | NCBI36 |
| NG_008104.2:g.14464A= , LRG_338:g.14464A= | |
| NG_008958.1:g.35736A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005915.6:c.2209+531A= MANE Select | NP_005906.2:n.2209+531A= |
| ENST00000264156.3:c.2209+531A= MANE Select | ENSP00000264156.2:n.2209+531A= |
| NM_005915.5:c.2209+531A= | NP_005906.2:n.2209+531A= |
| ENST00000264156.2:c.2209+531A= | ENSP00000264156.2:n.2209+531A= |
| ENST00000492091.1:n.635+531A= |