Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122508793T>C , CM000672.2:g.122508793T>C | GRCh38 |
| NC_000010.10:g.124268309T>C , CM000672.1:g.124268309T>C | GRCh37 |
| NC_000010.9:g.124258299T>C | NCBI36 |
| NG_011554.1:g.52269T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.1120+23T>C MANE Select | ENSP00000357980.3:n.1120+23T>C | |
| ENST00000648167.1:c.802+23T>C | ENSP00000498033.1:n.802+23T>C | |
| ENST00000368984.7:c.1120+23T>C | ENSP00000357980.3:n.1120+23T>C | |
| ENST00000420892.1:c.343+23T>C | ENSP00000412676.1:n.343+23T>C | |
| NM_002775.4:c.1120+23T>C | NP_002766.1:n.1120+23T>C | |
| NM_002775.5:c.1120+23T>C MANE Select | NP_002766.1:n.1120+23T>C |