Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176851C>T , CM000678.2:g.176851C>T | GRCh38 |
| NC_000016.9:g.226850C>T , CM000678.1:g.226850C>T | GRCh37 |
| NC_000016.8:g.166850C>T | NCBI36 |
| NG_000006.1:g.37714C>T | |
| NG_059186.1:g.5201C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.95+40C>T MANE Select | ENSP00000322421.5:n.95+40C>T | |
| ENST00000397797.1:c.-1-78C>T | ENSP00000380899.1:n.-1-78C>T | |
| ENST00000472694.1:n.154C>T | ||
| ENST00000487791.1:n.64+40C>T | ||
| NM_000558.4:c.95+40C>T | NP_000549.1:n.95+40C>T | |
| NM_000558.5:c.95+40C>T MANE Select | NP_000549.1:n.95+40C>T |