Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37226745G>A , CM000684.2:g.37226745G>A | GRCh38 |
| NC_000022.10:g.37622785G>A , CM000684.1:g.37622785G>A | GRCh37 |
| NC_000022.9:g.35952731G>A | NCBI36 |
| NG_007288.1:g.22521C>T , LRG_97:g.22521C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002872.5:c.507C>T MANE Select | NP_002863.1:p.Phe169= |
| ENST00000249071.11:c.507C>T MANE Select | ENSP00000249071.6:p.Phe169= |
| NM_002872.4:c.507C>T | NP_002863.1:p.Phe169= |
| ENST00000249071.10:c.507C>T | ENSP00000249071.6:p.Phe169= |
| ENST00000405484.5:c.486C>T | ENSP00000385590.1:p.Phe162= |
| ENST00000406508.5:c.375C>T | ENSP00000385270.1:p.Phe125= |
| ENST00000481215.1:n.332C>T | |
| ENST00000699915.1:n.565C>T |