Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31268977A>G , CM000668.2:g.31268977A>G | GRCh38 |
| NC_000006.11:g.31236754A>G , CM000668.1:g.31236754A>G | GRCh37 |
| NC_000006.10:g.31344733A>G | NCBI36 |
| NG_029422.2:g.8155T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.*192T>C MANE Select | ENSP00000365402.5:n.*192T>C | |
| ENST00000376228.9:c.*192T>C | ENSP00000365402.5:n.*192T>C | |
| ENST00000376237.8:c.*880T>C | ENSP00000365412.4:n.*880T>C | |
| ENST00000383329.7:c.*192T>C | ENSP00000372819.3:n.*192T>C | |
| ENST00000466892.5:n.526T>C | ||
| ENST00000470363.5:n.1051T>C | ||
| ENST00000487245.5:n.1652T>C | ||
| NM_002117.5:c.*192T>C | NP_002108.4:n.*192T>C | |
| NM_002117.6:c.*192T>C MANE Select | NP_002108.4:n.*192T>C |