Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.1792287A>G , CM000674.2:g.1792287A>G | GRCh38 |
| NC_000012.11:g.1901453A>G , CM000674.1:g.1901453A>G | GRCh37 |
| NC_000012.10:g.1771714A>G | NCBI36 |
| NG_012663.1:g.131418T>C | |
| NG_012663.2:g.131418T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_172364.5:c.*1368T>C MANE Select | NP_758952.4:n.*1368T>C |
| ENST00000382722.10:c.*1368T>C MANE Select | ENSP00000372169.4:n.*1368T>C |
| NM_172364.4:c.*1368T>C | NP_758952.4:n.*1368T>C |
| ENST00000280663.12:n.5612T>C | |
| ENST00000382722.9:c.*1368T>C | ENSP00000372169.4:n.*1368T>C |
| ENST00000537784.5:c.2552T>C |