Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110578786G>C , CM000672.2:g.110578786G>C | GRCh38 |
| NC_000010.10:g.112338544G>C , CM000672.1:g.112338544G>C | GRCh37 |
| NC_000010.9:g.112328534G>C | NCBI36 |
| NG_012217.1:g.16096G>C , LRG_774:g.16096G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.562+80G>C | ||
| ENST00000687823.1:n.343+80G>C | ||
| ENST00000689932.1:n.2492+80G>C | ||
| ENST00000691297.1:n.562+80G>C | ||
| ENST00000691527.1:n.1232+80G>C | ||
| ENST00000692792.1:n.548+80G>C | ||
| ENST00000361804.5:c.429+80G>C MANE Select | ENSP00000354720.5:n.429+80G>C | |
| ENST00000361804.4:c.429+80G>C | ENSP00000354720.4:n.429+80G>C | |
| ENST00000462899.1:n.575+80G>C | ||
| NM_005445.3:c.429+80G>C , LRG_774t1:c.429+80G>C | NP_005436.1:n.429+80G>C | |
| NM_005445.4:c.429+80G>C MANE Select | NP_005436.1:n.429+80G>C |