Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81365358C>A , CM000678.2:g.81365358C>A | GRCh38 |
| NC_000016.9:g.81398963C>A , CM000678.1:g.81398963C>A | GRCh37 |
| NC_000016.8:g.79956464C>A | NCBI36 |
| NG_009007.1:g.55393C>A , LRG_242:g.55393C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*1090C>A | ENSP00000498114.1:n.*1090C>A | |
| ENST00000648994.2:c.1382C>A MANE Select | ENSP00000497351.1:p.Ala461Glu | |
| ENST00000650388.1:c.916C>A | ENSP00000498081.1:n.916C>A | |
| ENST00000568107.2:c.1382C>A | ENSP00000476795.1:p.Ala461Glu | |
| NM_022041.3:c.1382C>A , LRG_242t1:c.1382C>A | NP_071324.1:p.Ala461Glu | |
| XM_017023734.1:c.743C>A | XP_016879223.1:p.Ala248Glu | |
| NM_001377486.1:c.743C>A | NP_001364415.1:p.Ala248Glu | |
| NM_022041.4:c.1382C>A MANE Select | NP_071324.1:p.Ala461Glu |