Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814038A= , CM000664.2:g.218814038A= | GRCh38 |
| NC_000002.11:g.219678761A= , CM000664.1:g.219678761A= | GRCh37 |
| NC_000002.10:g.219387005A= | NCBI36 |
| NG_007959.1:g.37290A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1035A= MANE Select | ENSP00000258415.4:p.Thr345= | |
| ENST00000258415.8:c.1035A= | ENSP00000258415.4:p.Thr345= | |
| ENST00000445971.1:c.*496A= | ENSP00000404945.1:n.*496A= | |
| ENST00000466602.1:n.1157A= | ||
| ENST00000494263.5:n.1469A= | ||
| NM_000784.3:c.1035A= | NP_000775.1:p.Thr345= | |
| XM_017003488.2:c.615A= | XP_016858977.1:p.Thr205= | |
| NM_000784.4:c.1035A= MANE Select | NP_000775.1:p.Thr345= |