Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81357003G>A , CM000678.2:g.81357003G>A | GRCh38 |
| NC_000016.9:g.81390608G>A , CM000678.1:g.81390608G>A | GRCh37 |
| NC_000016.8:g.79948109G>A | NCBI36 |
| NG_009007.1:g.47038G>A , LRG_242:g.47038G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*559+1G>A | ENSP00000498114.1:n.*559+1G>A | |
| ENST00000648994.2:c.851+1G>A MANE Select | ENSP00000497351.1:n.851+1G>A | |
| ENST00000650388.1:c.385+1G>A | ENSP00000498081.1:n.385+1G>A | |
| ENST00000568107.2:c.851+1G>A | ENSP00000476795.1:n.851+1G>A | |
| NM_022041.3:c.851+1G>A , LRG_242t1:c.851+1G>A | NP_071324.1:n.851+1G>A | |
| XM_017023734.1:c.212+1G>A | XP_016879223.1:n.212+1G>A | |
| NM_001377486.1:c.212+1G>A | NP_001364415.1:n.212+1G>A | |
| NM_022041.4:c.851+1G>A MANE Select | NP_071324.1:n.851+1G>A |