Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110501711T>A , CM000675.2:g.110501711T>A | GRCh38 |
| NC_000013.10:g.111154058T>A , CM000675.1:g.111154058T>A | GRCh37 |
| NC_000013.9:g.109952059T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001846.4:c.3804T>A MANE Select | NP_001837.2:p.Pro1268= |
| ENST00000360467.7:c.3804T>A MANE Select | ENSP00000353654.5:p.Pro1268= |
| ENST00000360467.5:c.3804T>A | ENSP00000353654.5:p.Pro1268= |
| ENST00000650225.1:n.1459T>A |