Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133070610C>T , CM000671.2:g.133070610C>T | GRCh38 |
| NC_000009.11:g.135945997C>T , CM000671.1:g.135945997C>T | GRCh37 |
| NC_000009.10:g.134935818C>T | NCBI36 |
| NG_016394.1:g.13633C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001807.6:c.1436C>T MANE Select | NP_001798.3:p.Thr479Ile |
| ENST00000372080.8:c.1436C>T MANE Select | ENSP00000361151.6:p.Thr479Ile |
| NM_001807.4:c.1445C>T | NP_001798.2:p.Thr482Ile |
| NM_001807.5:c.1436C>T | NP_001798.3:p.Thr479Ile |
| ENST00000372080.6:c.1445C>T | ENSP00000361151.4:p.Thr482Ile |
| ENST00000621209.1:c.*436C>T | ENSP00000480238.1:n.*436C>T |