Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110512120G>A , CM000675.2:g.110512120G>A | GRCh38 |
| NC_000013.10:g.111164467G>A , CM000675.1:g.111164467G>A | GRCh37 |
| NC_000013.9:g.109962468G>A | NCBI36 |
| NG_032137.1:g.209837G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001846.4:c.5068G>A MANE Select | NP_001837.2:p.Ala1690Thr |
| ENST00000360467.7:c.5068G>A MANE Select | ENSP00000353654.5:p.Ala1690Thr |
| NM_001846.2:c.5068G>A | NP_001837.2:p.Ala1690Thr |
| NM_001846.3:c.5068G>A | NP_001837.2:p.Ala1690Thr |
| ENST00000360467.5:c.5068G>A | ENSP00000353654.5:p.Ala1690Thr |
| ENST00000463084.1:n.666G>A | |
| ENST00000648222.1:n.756G>A | |
| ENST00000650225.1:n.2723G>A |