Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122508820C>T , CM000672.2:g.122508820C>T | GRCh38 |
| NC_000010.10:g.124268336C>T , CM000672.1:g.124268336C>T | GRCh37 |
| NC_000010.9:g.124258326C>T | NCBI36 |
| NG_011554.1:g.52296C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.1120+50C>T MANE Select | ENSP00000357980.3:n.1120+50C>T | |
| ENST00000648167.1:c.802+50C>T | ENSP00000498033.1:n.802+50C>T | |
| ENST00000368984.7:c.1120+50C>T | ENSP00000357980.3:n.1120+50C>T | |
| ENST00000420892.1:c.343+50C>T | ENSP00000412676.1:n.343+50C>T | |
| NM_002775.4:c.1120+50C>T | NP_002766.1:n.1120+50C>T | |
| NM_002775.5:c.1120+50C>T MANE Select | NP_002766.1:n.1120+50C>T |