Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1612605C>T , CM000668.2:g.1612605C>T | GRCh38 |
| NC_000006.11:g.1612840C>T , CM000668.1:g.1612840C>T | GRCh37 |
| NC_000006.10:g.1557839C>T | NCBI36 |
| NG_009368.1:g.7160C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.*498C>T MANE Select | ENSP00000493906.1:n.*498C>T | |
| ENST00000380874.3:c.*498C>T | ENSP00000370256.2:n.*498C>T | |
| NM_001453.2:c.2160C>T | NP_001444.2:n.2160C>T | |
| NM_001453.3:c.*498C>T MANE Select | NP_001444.2:n.*498C>T |