Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135789489A= , CM000664.2:g.135789489A= | GRCh38 |
| NC_000002.11:g.136547059A= , CM000664.1:g.136547059A= | GRCh37 |
| NC_000002.10:g.136263529A= | NCBI36 |
| NG_008104.2:g.70681T= , LRG_338:g.70681T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264162.7:c.5563+82T= MANE Select | ENSP00000264162.2:n.5563+82T= | |
| ENST00000264162.6:c.5563+82T= | ENSP00000264162.2:n.5563+82T= | |
| NM_002299.2:c.5563+82T= , LRG_338t1:c.5563+82T= | NP_002290.2:n.5563+82T= | |
| NM_002299.3:c.5563+82T= | NP_002290.2:n.5563+82T= | |
| NM_002299.4:c.5563+82T= MANE Select | NP_002290.2:n.5563+82T= |