Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110573870C>T , CM000672.2:g.110573870C>T | GRCh38 |
| NC_000010.10:g.112333628C>T , CM000672.1:g.112333628C>T | GRCh37 |
| NC_000010.9:g.112323618C>T | NCBI36 |
| NG_012217.1:g.11180C>T , LRG_774:g.11180C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.263+125C>T | ||
| ENST00000687823.1:n.45-1466C>T | ||
| ENST00000689932.1:n.728C>T | ||
| ENST00000691297.1:n.263+125C>T | ||
| ENST00000691527.1:n.220+125C>T | ||
| ENST00000692792.1:n.249+125C>T | ||
| ENST00000361804.5:c.130+125C>T MANE Select | ENSP00000354720.5:n.130+125C>T | |
| ENST00000361804.4:c.130+125C>T | ENSP00000354720.4:n.130+125C>T | |
| ENST00000462899.1:n.276+125C>T | ||
| NM_005445.3:c.130+125C>T , LRG_774t1:c.130+125C>T | NP_005436.1:n.130+125C>T | |
| NM_005445.4:c.130+125C>T MANE Select | NP_005436.1:n.130+125C>T |