Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58272825A= , CM000679.2:g.58272825A= | GRCh38 |
| NC_000017.10:g.56350186A= , CM000679.1:g.56350186A= | GRCh37 |
| NC_000017.9:g.53705185A= | NCBI36 |
| NG_009629.1:g.13111T= , LRG_84:g.13111T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000250.2:c.1715T= MANE Select | NP_000241.1:p.Leu572= |
| ENST00000225275.4:c.1715T= MANE Select | ENSP00000225275.3:p.Leu572= |
| NM_000250.1:c.1715T= , LRG_84t1:c.1715T= | NP_000241.1:p.Leu572= |
| ENST00000225275.3:c.1715T= | ENSP00000225275.3:p.Leu572= |
| ENST00000577220.1:c.173T= | ENSP00000464668.1:p.Leu58= |
| ENST00000578493.2:n.1048T= | |
| ENST00000699291.1:c.840T= | ENSP00000514272.1:n.840T= |
| ENST00000699292.1:n.1250T= | |
| XM_011524821.1:c.1901T= | XP_011523123.1:p.Leu634= |
| XM_011524822.1:c.1430T= | XP_011523124.1:p.Leu477= |