Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136055795T= , CM000667.2:g.136055795T= | GRCh38 |
| NC_000005.9:g.135391484T= , CM000667.1:g.135391484T= | GRCh37 |
| NC_000005.8:g.135419383T= | NCBI36 |
| NG_012646.1:g.31901T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000358.3:c.1526T= MANE Select | NP_000349.1:p.Leu509= |
| ENST00000442011.7:c.1526T= MANE Select | ENSP00000416330.2:p.Leu509= |
| NM_000358.2:c.1526T= | NP_000349.1:p.Leu509= |
| ENST00000442011.6:c.1526T= | ENSP00000416330.2:p.Leu509= |
| ENST00000506699.5:n.2043T= | |
| ENST00000507018.5:c.1504T= | |
| ENST00000509485.5:c.441T= | |
| ENST00000514242.5:n.297T= | |
| ENST00000514554.5:c.678T= |