Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176967C>T , CM000678.2:g.176967C>T | GRCh38 |
| NC_000016.9:g.226966C>T , CM000678.1:g.226966C>T | GRCh37 |
| NC_000016.8:g.166966C>T | NCBI36 |
| NG_000006.1:g.37830C>T | |
| NG_059186.1:g.5317C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000558.5:c.134C>T MANE Select | NP_000549.1:p.Pro45Leu |
| ENST00000320868.9:c.134C>T MANE Select | ENSP00000322421.5:p.Pro45Leu |
| NM_000558.4:c.134C>T | NP_000549.1:p.Pro45Leu |
| ENST00000397797.1:c.38C>T | ENSP00000380899.1:p.Pro13Leu |
| ENST00000472694.1:n.270C>T | |
| ENST00000487791.1:n.103C>T |