Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122508818A>G , CM000672.2:g.122508818A>G | GRCh38 |
| NC_000010.10:g.124268334A>G , CM000672.1:g.124268334A>G | GRCh37 |
| NC_000010.9:g.124258324A>G | NCBI36 |
| NG_011554.1:g.52294A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.1120+48A>G MANE Select | ENSP00000357980.3:n.1120+48A>G | |
| ENST00000648167.1:c.802+48A>G | ENSP00000498033.1:n.802+48A>G | |
| ENST00000368984.7:c.1120+48A>G | ENSP00000357980.3:n.1120+48A>G | |
| ENST00000420892.1:c.343+48A>G | ENSP00000412676.1:n.343+48A>G | |
| NM_002775.4:c.1120+48A>G | NP_002766.1:n.1120+48A>G | |
| NM_002775.5:c.1120+48A>G MANE Select | NP_002766.1:n.1120+48A>G |