Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81357823A= , CM000678.2:g.81357823A= | GRCh38 |
| NC_000016.9:g.81391428A= , CM000678.1:g.81391428A= | GRCh37 |
| NC_000016.8:g.79948929A= | NCBI36 |
| NG_009007.1:g.47858A= , LRG_242:g.47858A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*573A= | ENSP00000498114.1:n.*573A= | |
| ENST00000648994.2:c.865A= MANE Select | ENSP00000497351.1:p.Thr289= | |
| ENST00000650388.1:c.399A= | ENSP00000498081.1:n.399A= | |
| ENST00000568107.2:c.865A= | ENSP00000476795.1:p.Thr289= | |
| NM_022041.3:c.865A= , LRG_242t1:c.865A= | NP_071324.1:p.Thr289= | |
| XM_017023734.1:c.226A= | XP_016879223.1:p.Thr76= | |
| NM_001377486.1:c.226A= | NP_001364415.1:p.Thr76= | |
| NM_022041.4:c.865A= MANE Select | NP_071324.1:p.Thr289= |