Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81365363G>A , CM000678.2:g.81365363G>A | GRCh38 |
| NC_000016.9:g.81398968G>A , CM000678.1:g.81398968G>A | GRCh37 |
| NC_000016.8:g.79956469G>A | NCBI36 |
| NG_009007.1:g.55398G>A , LRG_242:g.55398G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*1095G>A | ENSP00000498114.1:n.*1095G>A | |
| ENST00000648994.2:c.1387G>A MANE Select | ENSP00000497351.1:p.Ala463Thr | |
| ENST00000650388.1:c.921G>A | ENSP00000498081.1:n.921G>A | |
| ENST00000568107.2:c.1387G>A | ENSP00000476795.1:p.Ala463Thr | |
| NM_022041.3:c.1387G>A , LRG_242t1:c.1387G>A | NP_071324.1:p.Ala463Thr | |
| XM_017023734.1:c.748G>A | XP_016879223.1:p.Ala250Thr | |
| NM_001377486.1:c.748G>A | NP_001364415.1:p.Ala250Thr | |
| NM_022041.4:c.1387G>A MANE Select | NP_071324.1:p.Ala463Thr |