Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49621712C>T , CM000676.2:g.49621712C>T | GRCh38 |
| NC_000014.8:g.50088430C>T , CM000676.1:g.50088430C>T | GRCh37 |
| NC_000014.7:g.49158180C>T | NCBI36 |
| NG_008920.1:g.5942C>T | |
| NG_033054.1:g.3920G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305386.4:c.444C>T MANE Select | ENSP00000307423.2:p.Leu148= | |
| ENST00000305386.3:c.444C>T | ENSP00000307423.2:p.Leu148= | |
| NM_002408.3:c.444C>T | NP_002399.1:p.Leu148= | |
| NM_002408.4:c.444C>T MANE Select | NP_002399.1:p.Leu148= |