Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31125716C>T , CM000668.2:g.31125716C>T | GRCh38 |
| NC_000006.11:g.31093493C>T , CM000668.1:g.31093493C>T | GRCh37 |
| NC_000006.10:g.31201472C>T | NCBI36 |
| NG_021348.1:g.15886C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259881.10:c.-188C>T MANE Select | ENSP00000259881.9:n.-188C>T | |
| ENST00000259881.9:c.-188C>T | ENSP00000259881.9:n.-188C>T | |
| ENST00000479581.5:n.61+10825C>T | ||
| ENST00000548049.1:n.157C>T | ||
| ENST00000550838.1:n.59-23C>T | ||
| ENST00000552747.1:n.53+10825C>T | ||
| NM_014068.2:c.-188C>T | NP_054787.2:n.-188C>T | |
| NM_014068.3:c.-188C>T MANE Select | NP_054787.2:n.-188C>T |