Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11958660C>T , CM000663.2:g.11958660C>T | GRCh38 |
| NC_000001.10:g.12018717C>T , CM000663.1:g.12018717C>T | GRCh37 |
| NC_000001.9:g.11941304C>T | NCBI36 |
| NG_008159.1:g.28972C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.975+13C>T MANE Select | ENSP00000196061.4:n.975+13C>T | |
| ENST00000196061.4:c.975+13C>T | ENSP00000196061.4:n.975+13C>T | |
| NM_000302.3:c.975+13C>T | NP_000293.2:n.975+13C>T | |
| NM_001316320.1:c.1116+13C>T | NP_001303249.1:n.1116+13C>T | |
| XM_011541594.1:c.1056+13C>T | XP_011539896.1:n.1056+13C>T | |
| XM_024447707.1:c.309+13C>T | XP_024303475.1:n.309+13C>T | |
| NM_000302.4:c.975+13C>T MANE Select | NP_000293.2:n.975+13C>T | |
| NM_001316320.2:c.1116+13C>T | NP_001303249.1:n.1116+13C>T |