Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461740T>C , CM000672.2:g.122461740T>C | GRCh38 |
| NC_000010.10:g.124221256T>C , CM000672.1:g.124221256T>C | GRCh37 |
| NC_000010.9:g.124211246T>C | NCBI36 |
| NG_011554.1:g.5216T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.88T>C MANE Select | ENSP00000357980.3:p.Ser30Pro | |
| ENST00000648167.1:c.154+3031T>C | ENSP00000498033.1:n.154+3031T>C | |
| ENST00000368984.7:c.88T>C | ENSP00000357980.3:p.Ser30Pro | |
| NM_002775.4:c.88T>C | NP_002766.1:p.Ser30Pro | |
| NM_002775.5:c.88T>C MANE Select | NP_002766.1:p.Ser30Pro |