Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218812795T= , CM000664.2:g.218812795T= | GRCh38 |
| NC_000002.11:g.219677518T= , CM000664.1:g.219677518T= | GRCh37 |
| NC_000002.10:g.219385762T= | NCBI36 |
| NG_007959.1:g.36047T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.844+46T= MANE Select | ENSP00000258415.4:n.844+46T= | |
| ENST00000258415.8:c.844+46T= | ENSP00000258415.4:n.844+46T= | |
| ENST00000411688.1:c.562+46T= | ENSP00000392671.1:n.562+46T= | |
| ENST00000445971.1:c.*305+46T= | ENSP00000404945.1:n.*305+46T= | |
| ENST00000466602.1:n.838T= | ||
| ENST00000494263.5:n.1278+46T= | ||
| NM_000784.3:c.844+46T= | NP_000775.1:n.844+46T= | |
| XM_017003488.2:c.424+46T= | XP_016858977.1:n.424+46T= | |
| NM_000784.4:c.844+46T= MANE Select | NP_000775.1:n.844+46T= |