Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154440002C>T , CM000685.2:g.154440002C>T | GRCh38 |
| NC_000023.10:g.153668349C>T , CM000685.1:g.153668349C>T | GRCh37 |
| NC_000023.9:g.153321543C>T | NCBI36 |
| NG_008954.1:g.8091C>T | |
| NG_013233.1:g.865C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447750.7:c.450C>T MANE Select | ENSP00000394071.2:p.Phe150= | |
| ENST00000434049.1:c.*94C>T | ENSP00000416195.1:n.*94C>T | |
| ENST00000447750.6:c.450C>T | ENSP00000394071.2:p.Phe150= | |
| ENST00000481304.5:n.516C>T | ||
| ENST00000489589.1:n.10C>T | ||
| ENST00000491154.1:n.922C>T | ||
| NM_001493.2:c.450C>T | NP_001484.1:p.Phe150= | |
| NM_001493.3:c.450C>T MANE Select | NP_001484.1:p.Phe150= |