Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81365440A= , CM000678.2:g.81365440A= | GRCh38 |
| NC_000016.9:g.81399045A= , CM000678.1:g.81399045A= | GRCh37 |
| NC_000016.8:g.79956546A= | NCBI36 |
| NG_009007.1:g.55475A= , LRG_242:g.55475A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*1172A= | ENSP00000498114.1:n.*1172A= | |
| ENST00000648994.2:c.1464A= MANE Select | ENSP00000497351.1:p.Val488= | |
| ENST00000650388.1:c.998A= | ENSP00000498081.1:n.998A= | |
| ENST00000567335.1:n.22A= | ||
| ENST00000568107.2:c.1464A= | ENSP00000476795.1:p.Val488= | |
| NM_022041.3:c.1464A= , LRG_242t1:c.1464A= | NP_071324.1:p.Val488= | |
| XM_017023734.1:c.825A= | XP_016879223.1:p.Val275= | |
| NM_001377486.1:c.825A= | NP_001364415.1:p.Val275= | |
| NM_022041.4:c.1464A= MANE Select | NP_071324.1:p.Val488= |