Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273543A= , CM000679.2:g.58273543A= | GRCh38 |
| NC_000017.10:g.56350904A= , CM000679.1:g.56350904A= | GRCh37 |
| NC_000017.9:g.53705903A= | NCBI36 |
| NG_009629.1:g.12393T= , LRG_84:g.12393T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.825T= | ||
| ENST00000699291.1:c.617T= | ENSP00000514272.1:n.617T= | |
| ENST00000699292.1:n.532T= | ||
| ENST00000225275.4:c.1492T= MANE Select | ENSP00000225275.3:p.Phe498= | |
| ENST00000225275.3:c.1492T= | ENSP00000225275.3:p.Phe498= | |
| NM_000250.1:c.1492T= , LRG_84t1:c.1492T= | NP_000241.1:p.Phe498= | |
| XM_011524821.1:c.1678T= | XP_011523123.1:p.Phe560= | |
| XM_011524822.1:c.1207T= | XP_011523124.1:p.Phe403= | |
| XM_011524823.1:c.*41T= | XP_011523125.1:n.*41T= | |
| NM_000250.2:c.1492T= MANE Select | NP_000241.1:p.Phe498= |