Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154441147C>T , CM000685.2:g.154441147C>T | GRCh38 |
| NC_000023.10:g.153669494C>T , CM000685.1:g.153669494C>T | GRCh37 |
| NC_000023.9:g.153322688C>T | NCBI36 |
| NG_008954.1:g.9236C>T | |
| NG_013233.1:g.2010C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001493.3:c.771C>T MANE Select | NP_001484.1:p.Asp257= |
| ENST00000447750.7:c.771C>T MANE Select | ENSP00000394071.2:p.Asp257= |
| NM_001493.2:c.771C>T | NP_001484.1:p.Asp257= |
| ENST00000447750.6:c.771C>T | ENSP00000394071.2:p.Asp257= |
| ENST00000468483.5:n.624C>T | |
| ENST00000471972.1:n.291C>T | |
| ENST00000476540.1:n.497C>T | |
| ENST00000489589.1:n.566C>T | |
| ENST00000491154.1:n.2067C>T |