Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46405089C>A , CM000663.2:g.46405089C>A | GRCh38 |
| NC_000001.10:g.46870761C>A , CM000663.1:g.46870761C>A | GRCh37 |
| NC_000001.9:g.46643348C>A | NCBI36 |
| NG_012195.1:g.15823C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001441.3:c.385C>A MANE Select | NP_001432.2:p.Pro129Thr |
| ENST00000243167.9:c.385C>A MANE Select | ENSP00000243167.8:p.Pro129Thr |
| NM_001441.2:c.385C>A | NP_001432.2:p.Pro129Thr |
| ENST00000243167.8:c.385C>A | ENSP00000243167.8:p.Pro129Thr |
| ENST00000468718.5:n.405C>A | |
| ENST00000493735.5:n.363C>A |