Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177400537C>T , CM000667.2:g.177400537C>T | GRCh38 |
| NC_000005.9:g.176827538C>T , CM000667.1:g.176827538C>T | GRCh37 |
| NC_000005.8:g.176760144C>T | NCBI36 |
| NG_007568.1:g.14040G>A , LRG_145:g.14040G>A | |
| NG_016223.1:g.21107C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001029886.3:c.40G>A (PFN3) MANE Select | NP_001025057.1:p.Asp14Asn |
| ENST00000358571.3:c.40G>A (PFN3) MANE Select | ENSP00000351379.2:p.Asp14Asn |
| NM_001029886.2:c.40G>A (PFN3) | NP_001025057.1:p.Asp14Asn |
| ENST00000358571.2:c.40G>A (PFN3) | ENSP00000351379.2:p.Asp14Asn |
| XM_017009773.2:c.1416+3463C>T (SLC34A1) | XP_016865262.1:n.1416+3463C>T |