Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177400422G>A , CM000667.2:g.177400422G>A | GRCh38 |
| NC_000005.9:g.176827423G>A , CM000667.1:g.176827423G>A | GRCh37 |
| NC_000005.8:g.176760029G>A | NCBI36 |
| NG_007568.1:g.14155C>T , LRG_145:g.14155C>T | |
| NG_016223.1:g.20992G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001029886.3:c.155C>T (PFN3) MANE Select | NP_001025057.1:p.Thr52Met |
| ENST00000358571.3:c.155C>T (PFN3) MANE Select | ENSP00000351379.2:p.Thr52Met |
| NM_001029886.2:c.155C>T (PFN3) | NP_001025057.1:p.Thr52Met |
| ENST00000358571.2:c.155C>T (PFN3) | ENSP00000351379.2:p.Thr52Met |
| XM_017009773.2:c.1416+3348G>A (SLC34A1) | XP_016865262.1:n.1416+3348G>A |