Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110578724C>G , CM000672.2:g.110578724C>G | GRCh38 |
| NC_000010.10:g.112338482C>G , CM000672.1:g.112338482C>G | GRCh37 |
| NC_000010.9:g.112328472C>G | NCBI36 |
| NG_012217.1:g.16034C>G , LRG_774:g.16034C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.562+18C>G | ||
| ENST00000687823.1:n.343+18C>G | ||
| ENST00000689932.1:n.2492+18C>G | ||
| ENST00000691297.1:n.562+18C>G | ||
| ENST00000691527.1:n.1232+18C>G | ||
| ENST00000692792.1:n.548+18C>G | ||
| ENST00000361804.5:c.429+18C>G MANE Select | ENSP00000354720.5:n.429+18C>G | |
| ENST00000361804.4:c.429+18C>G | ENSP00000354720.4:n.429+18C>G | |
| ENST00000462899.1:n.575+18C>G | ||
| NM_005445.3:c.429+18C>G , LRG_774t1:c.429+18C>G | NP_005436.1:n.429+18C>G | |
| NM_005445.4:c.429+18C>G MANE Select | NP_005436.1:n.429+18C>G |