Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154442608C>T , CM000685.2:g.154442608C>T | GRCh38 |
| NC_000023.10:g.153670955C>T , CM000685.1:g.153670955C>T | GRCh37 |
| NC_000023.9:g.153324149C>T | NCBI36 |
| NG_008954.1:g.10697C>T | |
| NG_013233.1:g.3471C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001493.3:c.1280C>T MANE Select | NP_001484.1:p.Thr427Met |
| ENST00000447750.7:c.1280C>T MANE Select | ENSP00000394071.2:p.Thr427Met |
| NM_001493.2:c.1280C>T | NP_001484.1:p.Thr427Met |
| ENST00000447750.6:c.1280C>T | ENSP00000394071.2:p.Thr427Met |
| ENST00000460984.1:n.442C>T | |
| ENST00000465640.1:n.634C>T | |
| ENST00000468483.5:n.1560C>T | |
| ENST00000491154.1:n.3212C>T |