Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119422912C>T , CM000663.2:g.119422912C>T | GRCh38 |
| NC_000001.10:g.119965535C>T , CM000663.1:g.119965535C>T | GRCh37 |
| NC_000001.9:g.119767058C>T | NCBI36 |
| NG_013349.1:g.12982C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369416.4:c.*292C>T MANE Select | ENSP00000358424.3:n.*292C>T | |
| ENST00000369416.3:c.*292C>T | ENSP00000358424.3:n.*292C>T | |
| ENST00000543831.5:c.*292C>T | ENSP00000445122.1:n.*292C>T | |
| NM_000198.3:c.*292C>T | NP_000189.1:n.*292C>T | |
| NM_001166120.1:c.*292C>T | NP_001159592.1:n.*292C>T | |
| NM_000198.4:c.*292C>T MANE Select | NP_000189.1:n.*292C>T | |
| NM_001166120.2:c.*292C>T | NP_001159592.1:n.*292C>T |