Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135845806T= , CM000664.2:g.135845806T= | GRCh38 |
| NC_000002.11:g.136603376T= , CM000664.1:g.136603376T= | GRCh37 |
| NC_000002.10:g.136319846T= | NCBI36 |
| NG_008104.2:g.14364A= , LRG_338:g.14364A= | |
| NG_008958.1:g.35636A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264156.3:c.2209+431A= MANE Select | ENSP00000264156.2:n.2209+431A= | |
| ENST00000264156.2:c.2209+431A= | ENSP00000264156.2:n.2209+431A= | |
| ENST00000492091.1:n.635+431A= | ||
| NM_005915.5:c.2209+431A= | NP_005906.2:n.2209+431A= | |
| NM_005915.6:c.2209+431A= MANE Select | NP_005906.2:n.2209+431A= |